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AmiRsardari Z, Gholipour A, Khajali Z, Maleki M, Malakootian M. Exploring the role of non-coding RNAs in atrial septal defect pathogenesis: A systematic review. PLoS One 2024; 19:e0306576. [PMID: 39172906 PMCID: PMC11340980 DOI: 10.1371/journal.pone.0306576] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/29/2023] [Accepted: 06/19/2024] [Indexed: 08/24/2024] Open
Abstract
BACKGROUND Extensive research has recognized the significant roles of non-coding RNAs (ncRNAs) in various cellular pathophysiological processes and their association with diverse diseases, including atrial septal defect (ASD), one of the most prevalent congenital heart diseases. This systematic review aims to explore the intricate involvement and significance of ncRNAs in the pathogenesis and progression of ASD. METHODS Four databases (PubMed, Embase, Scopus, and the Web of Science) were searched systematically up to June 19, 2023, with no year restriction. The risk of bias assessment was evaluated using the Newcastle-Ottawa scale. RESULTS The present systematic review included thirteen studies with a collective study population of 874 individuals diagnosed with ASD, 21 parents of ASD patients, and 22 pregnant women carrying ASD fetuses. Our analysis revealed evidence linking five long ncRNAs (STX18-AS1, HOTAIR, AA709223, BX478947, and Moshe) and several microRNAs (hsa-miR-19a, hsa-miR-19b, hsa-miR-375, hsa-miR-29c, miR-29, miR-143/145, miR-17-92, miR-106b-25, and miR-503/424, miR-9, miR-30a, miR-196a2, miR-139-5p, hsa-let-7a, hsa-let-7b, and hsa-miR-486) to ASD progression, corresponding to previous studies. CONCLUSIONS NcRNAs play a crucial role in unraveling the underlying mechanisms of ASD, contributing to both biomarker discovery and therapeutic advancements. This systematic review sheds light on the mechanisms of action of key ncRNAs involved in ASD progression, providing valuable insights for future research in this field.
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Affiliation(s)
- Zahra AmiRsardari
- Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
- School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
- Congenital Heart Disease Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
| | - Akram Gholipour
- Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
| | - Zahra Khajali
- Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
- Congenital Heart Disease Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
| | - Majid Maleki
- Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
| | - Mahshid Malakootian
- Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
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Fakhrezare F, Ebrahimi SO, Reiisi S. The association between genetic variation rs2292832 and the processing efficiency of pre-mir-149 affects the risk of breast cancer. Mol Biol Rep 2023; 50:679-685. [PMID: 36371555 DOI: 10.1007/s11033-022-08027-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2022] [Accepted: 10/12/2022] [Indexed: 11/14/2022]
Abstract
BACKGROUND microRNAs (miRNAs) play key roles in regulating cancer development, including breast cancer. Variation in miRNA genes can associate with the risk of cancer by alterations in the miRNA's processing and maturation. Therefore, human blood samples and breast cancer cell line (MCF7) were analyzed to study any possible association between the genetic variant (rs2292832) in the miR-149 precursor and breast cancer susceptibility. METHODS To study the role of rs2292832 polymorphism in breast cancer, the miR-149 gene variant was genotyped using PCR-RFLP. For evaluating the effect of SNP on function and expression levels of mature miR-149, we inserted pre-miR-149 and flanking region with CC or TT genotype into a pEGFPN1 expression vector, and qPCR was accomplished. Cell survival, proliferation, and migration properties investigated by MTT and wound healing assay. Statistical analysis was carried out for data analysis. RESULTS T allele in variant rs2292832 is associated with an increased risk of breast cancer. Such association was also obtained in co-dominant (OR = 2.5) and dominant (OR = 2.016) models. The variant allele led to reduced production of mature miR-149 and resulted in increased cell proliferation and migration of MCF7 cells. CONCLUSION These findings suggest that miR-149 suppresses tumor cell proliferation, and the pre-mir-149 polymorphism affects the processing of miR-149, causing an alteration in the abundance of the miRNA mature form, which can regulate tumor progression and metastasis.
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Affiliation(s)
- Farzaneh Fakhrezare
- Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran
| | - Seyed Omar Ebrahimi
- Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran
| | - Somayeh Reiisi
- Department of Genetics, Faculty of Basic Sciences, Shahrekord University, Shahrekord, Iran.
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Radanova M, Levkova M, Mihaylova G, Manev R, Maneva M, Hadgiev R, Conev N, Donev I. Single Nucleotide Polymorphisms in microRNA Genes and Colorectal Cancer Risk and Prognosis. Biomedicines 2022; 10:156. [PMID: 35052835 PMCID: PMC8773793 DOI: 10.3390/biomedicines10010156] [Citation(s) in RCA: 15] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/21/2021] [Revised: 01/09/2022] [Accepted: 01/10/2022] [Indexed: 02/01/2023] Open
Abstract
There is growing interest in single nucleotide polymorphisms (SNPs) in the genes of microRNAs (miRNAs), which could be associated with susceptibility to colorectal cancer (CRC) and therefore for prognosis of the disease and/or treatment response. Moreover, these miRNAs-SNPs could serve as new, low-invasive biomarkers for early detection of CRC. In the present article, we performed a thorough review of different SNPs, which were investigated for a correlation with the CRC risk, prognosis, and treatment response. We also analyzed the results from different meta-analyses and the possible reasons for reported contradictory findings, especially when different research groups investigated the same SNP in a gene for a particular miRNA. This illustrates the need for more case-control studies involving participants with different ethnic backgrounds. According to our review, three miRNAs-SNPs-miR-146a rs2910164, miR-27a rs895819 and miR-608 rs4919510-appear as promising prognostic, diagnostic and predictive biomarkers for CRC, respectively.
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Affiliation(s)
- Maria Radanova
- Department of Biochemistry, Molecular Medicine and Nutrigenomics, Medical University of Varna, 9000 Varna, Bulgaria;
- Laboratory of Molecular Pathology, University Hospital “St. Marina”, 9000 Varna, Bulgaria
| | - Mariya Levkova
- Department of Medical Genetics, Medical University of Varna, 9000 Varna, Bulgaria;
| | - Galya Mihaylova
- Department of Biochemistry, Molecular Medicine and Nutrigenomics, Medical University of Varna, 9000 Varna, Bulgaria;
| | - Rostislav Manev
- Department of Oncology, Medical University of Varna, 9000 Varna, Bulgaria; (R.M.); (M.M.); (N.C.)
- Clinic of Medical Oncology, University Hospital “St. Marina”, 9000 Varna, Bulgaria
| | - Margarita Maneva
- Department of Oncology, Medical University of Varna, 9000 Varna, Bulgaria; (R.M.); (M.M.); (N.C.)
- Clinic of Medical Oncology, University Hospital “St. Marina”, 9000 Varna, Bulgaria
| | - Rossen Hadgiev
- Department of Anatomy and Histology, Pathology and Forensic Medicine, Sofia University “St. Kliment Ohridski”, 1000 Sofia, Bulgaria;
| | - Nikolay Conev
- Department of Oncology, Medical University of Varna, 9000 Varna, Bulgaria; (R.M.); (M.M.); (N.C.)
- Clinic of Medical Oncology, University Hospital “St. Marina”, 9000 Varna, Bulgaria
| | - Ivan Donev
- Clinic of Medical Oncology, Hospital “Nadezhda”, 1000 Sofia, Bulgaria;
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Methylenetetrahydrofolate reductase C677T (Ala>Val, rs1801133 C>T) polymorphism decreases the susceptibility of hepatocellular carcinoma: a meta-analysis involving 12,628 subjects. Biosci Rep 2021; 40:222027. [PMID: 32010931 PMCID: PMC7033308 DOI: 10.1042/bsr20194229] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2019] [Revised: 01/03/2020] [Accepted: 01/13/2020] [Indexed: 12/14/2022] Open
Abstract
C677T (Ala>Val, rs1801133 C>T), a non-synonymous variant of methylenetetrahydrofolate reductase (MTHFR) gene, has been found to be associated with an impair enzyme activity of MTHFR. The relationship of MTHFR rs1801133 with hepatocellular carcinoma (HCC) has been extensively investigated. However, the findings were conflicting. Recently, more investigations have been conducted on the relationship of MTHFR rs1801133 with HCC. To obtain a more precise assessment on the effect of this non-synonymous variant to the development of HCC, a pooled-analysis was performed. This meta-analysis consisted of 19 independent case–control studies. By using the odds ratio (OR) combined with 95% confidence interval (CI), the relationship of MTHFR rs1801133 with HCC risk was determined. A total of 19 independent case–control studies were included. Finally, 6,102 HCC cases and 6,526 controls were recruited to examine the relationship of MTHFR rs1801133 with HCC risk. In recessive model (TT vs. CC/CT), the findings reached statistical significance (OR, 0.90; 95%CI, 0.82–0.98; P = 0.016). Subgroup analysis also found an association between MTHFR rs1801133 polymorphism and the decreased risk of HCC in hepatitis/virus related patients (recessive model: OR, 0.85; 95%CI, 0.72–0.99; P = 0.035, and allele model: OR, 0.90; 95%CI, 0.81–0.99; P = 0.028). Subgroup analyses indicated that extreme heterogeneity existed in Asian population, larger sample size investigation, hospital-based study and normal/healthy control subgroups. The shape of Begger’s seemed symmetrical. Egger’s linear regression test also confirmed these evaluations. Sensitivity analyses suggested that our findings were stable. In summary, our results highlight that MTHFR rs1801133 polymorphism decreases HCC susceptibility. The relationship warrants a further assessment.
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Liu J, Dong P, Zhou L, Wang S. The Association between Five Genetic Variants in MicroRNAs (rs2910164, rs11614913, rs3746444, rs11134527, and rs531564) and Cervical Cancer Risk: A Meta-Analysis. BIOMED RESEARCH INTERNATIONAL 2021; 2021:9180874. [PMID: 33816633 PMCID: PMC7987420 DOI: 10.1155/2021/9180874] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 08/19/2020] [Revised: 01/17/2021] [Accepted: 02/15/2021] [Indexed: 12/28/2022]
Abstract
The objective of this study was to conduct a meta-analysis to systematically summarize and investigate the association of miRNA-124 rs531564, miRNA-218 rs11134527, miRNA-146a rs2910164, miRNA-196a2 rs11614913, and miRNA-499 rs3746444 polymorphisms with cervical cancer. A systematic review was performed to identify relevant studies using Embase and PubMed databases. A chi-square-based Q-test combined with the inconsistency index (I 2) was used to check the heterogeneity between studies. A total of six case-control studies on rs2910164 and rs11614913, 4 studies on rs3746444 and rs11134527, and three studies on rs531564 were included. No evidence of association was found between miR-146a rs2910164, miR-196a2 rs11614913, miRNA-499 rs3746444, and miR-218 rs11134527 polymorphisms and cervical cancer risk in all the genetic models. The miR-124 rs531564 polymorphism was associated with a statistically increased risk of cervical cancer in a homozygote model (CC vs. GG: OR = 2.87, 95% CI: 1.40-5.91, P H = 0.887), dominant model (GC/CC vs. GG: OR = 1.38, 95% CI: 1.07-1.80, P H = 0.409), and recessive model (CC vs. GC/GG: OR = 2.26, 95% CI: 1.58-3.23, P H = 0.979). However, this finding should be interpreted with caution for limited samples and heterogeneity. Large-scale and well-designed studies are needed to validate our result.
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Affiliation(s)
- Jia Liu
- Department of Obstetrics and Gynecology, Xuanwu Hospital, Capital Medical University, Beijing, China
| | - Peng Dong
- Department of Obstetrics and Gynecology, Xuanwu Hospital, Capital Medical University, Beijing, China
| | - Liane Zhou
- Department of Obstetrics and Gynecology, Xuanwu Hospital, Capital Medical University, Beijing, China
| | - Shijun Wang
- Department of Obstetrics and Gynecology, Xuanwu Hospital, Capital Medical University, Beijing, China
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Association of miR-27a polymorphism with the risk of digestive system cancers. Pathol Res Pract 2020; 216:153115. [DOI: 10.1016/j.prp.2020.153115] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/25/2020] [Revised: 06/25/2020] [Accepted: 07/06/2020] [Indexed: 12/16/2022]
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Ashok N, Kirubakaran R, Saraswathy R. Association of vitamin D gene polymorphisms in children with asthma - A systematic review. Heliyon 2020; 6:e04795. [PMID: 32939414 PMCID: PMC7479342 DOI: 10.1016/j.heliyon.2020.e04795] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2020] [Revised: 06/23/2020] [Accepted: 08/24/2020] [Indexed: 11/30/2022] Open
Abstract
INTRODUCTION The association of Vitamin D and children with asthma is known and there are several individual studies on Vitamin D polymorphisms. However, systematic reviews on all vitamin D associated gene polymorphisms have not been done in children with asthma. OBJECTIVE To investigate the association of Vitamin D associated gene polymorphisms and asthma in children (0-18 years) by systematic review and meta-analytic approach. METHODS Our search included 20 full text articles of which 15 were case control studies and 5 used family based linkage disequilibrium method. Total of 2491cases and 3682 controls were included in case control studies, with mean age of 9.58 years and 10.16 years respectively. Quantitative and qualitative analysis were done. RESULTS Quantitative analysis revealed significant association with protective effect of Apa1 polymorphism in allele (OR 0.81 (0.71,0.91) and homozygous major form (OR 0.83 (0.70,0.98) and Taq 1 minor allele in homozygous form (OR 0.73 (0.58,0.92) in children with asthma. However, the minor allele of Apa1(OR 1.21 (1.07,1.37), Bsm 1 in heterozygous (OR 1.35 (1.07,1.71) and homozygous minor form (OR 1.95 (1.59,2.39), major allele of Fok1(OR1.34 (1.17,1.52) and Taq1 (OR 1.22 (1.08,1.38) were found to be increasing the odds of asthma. Ethnic variations were noted in subgroup analysis. Qualitative analysis of the polymorphisms of the Vitamin D associated metabolic genes also showed significant associations. CONCLUSION Our review shows significant associations with VDR polymorphisms - Apa1, Bsm1, Fok 1, Taq 1, polymorphisms of Vitamin D metabolic genes - CYP27A1, CYP 2R1, CYP 24A1, GC and genes related to Vitamin D response element (VDRE) in children with asthma. Conducting large studies involving various ethnic regions will strengthen our knowledge on the association and aid in targeted interventions for control of asthma in children.
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Affiliation(s)
- Narmada Ashok
- School of Biosciences & Technology, VIT University, Vellore
- Nalam Medical Centre & Hospital, Vellore
| | | | - Radha Saraswathy
- 120TT Biomedical Genetics Research Lab (BMGRL), Dept of Biomedical Sciences, School of Biosciences & Technology, VIT University 632014, Vellore
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Yan S, Chen H, Wang Z, Zhao L. Association of two polymorphisms Asp299Gly and Thr399Ile in Toll-like receptor 4 with rheumatoid arthritis: A meta-analysis. Int J Rheum Dis 2020; 23:1117-1125. [PMID: 32558389 DOI: 10.1111/1756-185x.13890] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/12/2020] [Revised: 05/04/2020] [Accepted: 05/27/2020] [Indexed: 11/28/2022]
Abstract
Our meta-analysis aims to evaluate the association of Asp299Gly and Thr399Ile with rheumatoid arthritis (RA) susceptibility and severity. By manually searching 3 electronic databases (PubMed, Embase and Web of Science), relevant articles were collected. After checking eligibility for every study, this meta-analysis on eligible studies was performed under 5 genetic models: (1) allelic contrast; (2) heterozygous model; (3) homozygous model; (4) dominant model; (5) recessive model. In Spanish populations, a significantly decreased RA risk was identified in allelic comparison (odds ratio [OR] = 0.73, 95% CI 0.55 ~ 0.96) and dominant model (OR = 0.74, 95% CI 0.56 ~ 0.99) of Asp299Gly polymorphism. A trend of reduced risk was also observed under the heterozygous model (OR = 0.77, 95% CI 0.58 ~ 1.03). As for Thr399Ile, it might also have a protective effect on Spanish populations in allelic comparison (OR = 0.71, 95% CI 0.44 ~ 1.15). In contrast, for both Asp299Gly and Thr399Ile, a higher risk of RA was detected in Chinese Han populations. The frequency of both Asp299Gly and Thr399Ile increased in rheumatoid factor (RF)-positive subjects in Chinese patients (Asp299Gly, RF+:RF- = 0.165:0.145; Thr399Ile, RF+:RF- = 0.170:0.161) and decreased in Spanish patients (Asp299Gly, RF+:RF- = 0.060:0.073; Thr399Ile, RF+:RF- = 0.046:0.056), but not to a statistically significant extent. Our meta-analysis suggested that both Asp299Gly and Thr399Ile might have a protective effect on Spanish populations, but the 2 polymorphisms could act as a susceptible factor in Chinese Han populations. To confirm our results, further investigation concerning the functional impacts of Asp299Gly and Thr399Ile are still needed.
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Affiliation(s)
- Shunchao Yan
- Clinical Medical College of Henan University, Kaifeng, China
| | - Haobo Chen
- Basic Medical College of Henan University, Kaifeng, China
| | - Zixian Wang
- First Affiliated Hospital of Henan University, Kaifeng, China
| | - Linshan Zhao
- Clinical Medical College of Henan University, Kaifeng, China
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Dong J, Sun D, Lu F. Association of two polymorphisms of miRNA-146a rs2910164 (G > C) and miRNA-499 rs3746444 (T > C) with asthma: a meta-analysis. J Asthma 2020; 58:995-1002. [PMID: 32308092 DOI: 10.1080/02770903.2020.1759085] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
OBJECTIVE To conduct a meta-analysis to determine the association between two single nucleotide polymorphisms (SNPs) miRNA146a rs2910164 (G > C) and miRNA-499 rs3746444 (T > C) and asthma risk. DATA SOURCES PubMed and Embase (updated May 17, 2019). KEYWORDS (microRNA OR microRNAs) AND (polymorphism OR polymorphisms) AND (Asthmas OR Bronchial Asthma OR Asthma, Bronchial). RESULTS Six eligible case-control studies (2441 asthma cases and 3044 controls) met our inclusion criteria. A trend of increased asthma risk was indicated by the heterozygote model (miR-499: TC versus TT, OR = 1.38, 95% CI = 1.06-1.79, P < 0.01) and the dominant model (miR-499: TC + CC versus TT, OR = 1.60, 95% CI = 1.07-2.39, P < 0.01) of miRNA-499 rs3746444. Polymorphisms rs2910164 in miRNA-146a of the allele model (miR-146a: C versus G, OR = 0.84, 95% CI = 0.74-0.96, P = 0.238), homozygote model (miR-146a: CC versus GG, OR = 0.68, 95% CI = 0.51-0.91, P = 0.213), recessive model (miR-146a: CC versus GC + GG, OR = 0.75, 95% CI = 0.60-0.94, P = 0.149) indicated a decreased risk of asthma. CONCLUSIONS The miR-499 rs3746444 (T > C) polymorphism is associated with asthma susceptibility and miRNA-146a rs2910164 (G > C) polymorphism has a protective role against susceptibility to asthma.
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Affiliation(s)
- Jing Dong
- College of medicine, North China University of Science and Technology, Tangshan, China
| | - Dandan Sun
- College of medicine, North China University of Science and Technology, Tangshan, China
| | - Fangting Lu
- College of medicine, North China University of Science and Technology, Tangshan, China
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Ibrahim AA, Ramadan A, Wahby AA, Hassan M, Soliman HM, Abdel Hamid TA. Micro-RNA 196a2 expression and miR-196a2 (rs11614913) polymorphism in T1DM: a pilot study. J Pediatr Endocrinol Metab 2019; 32:1171-1179. [PMID: 31472066 DOI: 10.1515/jpem-2019-0226] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/20/2019] [Accepted: 08/02/2019] [Indexed: 12/28/2022]
Abstract
Background Recent emerging evidence supports the role of miR-196a2 in various human diseases. However, its role in type 1 diabetes mellitus (T1DM) is still underestimated. We aimed, for the first time, to investigate the expression of miR-196a2 in T1DM and the association of miR-196a2 (rs11614913) polymorphism with susceptibility of T1DM in a sample of patients from Cairo, Egypt. Methods The study included 150 patients and 150 healthy subjects. Evaluation of rs11614913 genotypes and miR-196a2 expression was done using the allelic discrimination and quantitative reverse transcriptase polymerase chain reaction (PCR) method, respectively. Results The Hardy-Weinberg equilibrium of single nucleotide polymorphism(SNP) was detected among controls (p = 0.2). Our results revealed that the TT genotype was more frequent in patients (22.6%) than controls (10%) while the CC genotype was more frequent in controls (47.3%) than patients (39.3%) (p = 0.01). The frequency of the T allele was significantly higher in patients than in controls (41.7 vs. 31.3%), while the C allele was more frequent in controls (p = 0.008). After adjustment for traditional risk factors, the association of the TT genotype with T1DM remained significant (TT vs. CC, odds ration [OR] = 3.2, 95% confidence interval [CI]: 1.4-7.4, p = 0.005). Power analysis of the data yielded a statistical power of 80% for the miR-196a2 rs11614913 with T1DM. Relative expression of miR-196a2 showed significant decrease in patients compared to controls (median = 0.09, 0.5, interquartile range [IQR] = 0.03-1.6, 0.1-2.1). However, miR-196a2 expression showed no significant difference between different rs11614913 genotypes (p = 0.5). Conclusions Our findings demonstrated that miR-196a rs11614913 is associated with T1DM and decreased expression of miR-196a2 may play a role in pathogenesis of T1DM.
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Affiliation(s)
- Alshaymaa A Ibrahim
- Clinical and Chemical Pathology Department, National Research Centre, El Buhouth St, Dokki, Cairo 12311, Egypt, Phone: 00201006193988, Fax: +20233370931
| | - Abeer Ramadan
- Molecular Genetics and Enzymology Department, Human Genetic and Genome Research Division, National Research Centre, Cairo, Egypt
| | - Aliaa Ahmed Wahby
- Clinical and Chemical Pathology Department, National Research Centre, Cairo, Egypt
| | - Mirhane Hassan
- Clinical and Chemical Pathology Department, National Research Centre, Cairo, Egypt
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Luo X, Wang Y, Shen A, Deng H, Ye M. Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis. BMC MEDICAL GENETICS 2019; 20:142. [PMID: 31419949 PMCID: PMC6697945 DOI: 10.1186/s12881-019-0871-2] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 02/16/2019] [Accepted: 08/02/2019] [Indexed: 02/07/2023]
Abstract
BACKGROUND & AIMS Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis B virus (HBV)/ hepatitis C virus (HCV)-induced hepatocellular carcinoma (HCC); however, the results are inconclusive. This meta-analysis was conducted to investigate the relationship between rs2596542 and HCV/HBV-induced HCC. METHODS Three electronic scientific publication databases (MEDLINE, Web of Science, and Embase) were screened using specific search terms and relevant literature identified using literature traceability methods. Selected publications were evaluated according to the inclusion and exclusion criteria, and 11 articles were included in the study. Effect size information (odds ratio [OR] and corresponding 95% confidence interval [CI]) were obtained following quality assessment and data extraction from the included publications, and a meta-analysis conducted. RESULTS A total of 11 publications were included in the study, including 4582 patients with HCC and 21,095 non-HCC patients. TT genotype at rs2596542 was a risk factor for the development of HCC in patients with HCV/HBV infection (OR = 1.248, 95% CI: 1.040-1.499, P = 0.017), particularly those with HCV infection (OR = 1.326, 95% CI: 1.101-1.599, P = 0.003) and Asians (OR = 1.273, 95% CI: 1.002-1.618, P = 0.048), or when the control group was patients with chronic hepatitis C (CHC) (OR = 1.506, 95% CI: 1.172-1.936, P = 0.001). CONCLUSION The findings of this meta-analysis suggest that the rs2596542 variant in the MICA promoter region may affect MICA and soluble MICA (sMICA) protein expression, thereby influencing physiological vulnerability to HCC cells and the development of HCC. These data provide a theoretical basis for the diagnosis and treatment of patients with HCC and viral hepatitis infection.
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Affiliation(s)
- Xiaojun Luo
- Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital & Chongqing Cancer Institute & Chongqing Cancer Hospital, No. 181 Hanyu Road, Shapingba District, Chongqing, 400030, China
| | - Yu Wang
- Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital & Chongqing Cancer Institute & Chongqing Cancer Hospital, No. 181 Hanyu Road, Shapingba District, Chongqing, 400030, China
| | - Ai Shen
- Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital & Chongqing Cancer Institute & Chongqing Cancer Hospital, No. 181 Hanyu Road, Shapingba District, Chongqing, 400030, China
| | - Hejun Deng
- Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital & Chongqing Cancer Institute & Chongqing Cancer Hospital, No. 181 Hanyu Road, Shapingba District, Chongqing, 400030, China
| | - Min Ye
- Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital & Chongqing Cancer Institute & Chongqing Cancer Hospital, No. 181 Hanyu Road, Shapingba District, Chongqing, 400030, China.
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Chen L, Huang Z, Liao Y, Yang B, Zhang J. Association between tumor necrosis factor polymorphisms and rheumatoid arthritis as well as systemic lupus erythematosus: a meta-analysis. ACTA ACUST UNITED AC 2019; 52:e7927. [PMID: 30916218 PMCID: PMC6437938 DOI: 10.1590/1414-431x20187927] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/03/2018] [Accepted: 12/10/2018] [Indexed: 02/05/2023]
Abstract
Tumor necrosis factor-alpha (TNF-α) plays an important role in
autoimmune diseases. Previous studies have investigated the association of
TNF-α-238G/A (rs361525) and -308G/A
(rs1800629) polymorphisms with rheumatoid arthritis (RA) and systemic lupus
erythematosus (SLE). However, no agreed conclusion had been made. Therefore,
this meta-analysis was conducted to assess the associations of
TNF-α-238G/A and -308G/A polymorphisms
with RA and SLE risk. A systematic search was conducted in commonly used
databases. Meta-analysis was performed by STATA12.0. A total of 43 studies were
included. In the overall population, the TNF-α-238A allele was
observed to be a protective factor for RA (A vs G: OR=0.75,
95%CI=0.57–0.99, P=0.040) and the TNF-α-308A allele was found
to be a risk factor for SLE (A vs G: OR=1.78, 95%CI=1.45–2.19,
P<0.001). However, no evidence of association was found between
TNF-α-238 G/A polymorphism and SLE nor between -308G/A and
RA. In the subgroup analysis, TNF-α-308A allele played a
pathogenic role for RA in Latin Americans (A vs G: OR=1.46,
95%CI=1.15–1.84, P=0.002) and for SLE in Latin Americans (A vs
G: OR=2.12, 95%CI=1.32–3.41, P=0.002) and Europeans (A vs G:
OR=2.03, 95%CI=1.56–2.63, P<0.001), while it played a protective role for RA
in Asians (A vs G: OR=0.54, 95%CI=0.32–0.90, P=0.017). No
significant association was found between TNF-α-308G/A and SLE
susceptibility in Africans and Asians. This meta-analysis demonstrated that
TNF-α-238A was associated with decreased risk of RA rather
than SLE, while -308G/A polymorphism was associated with SLE
rather than RA. Stratification analysis indicated that different ethnicities
would have different risk alleles.
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Affiliation(s)
- Lin Chen
- Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
| | - Zhuochun Huang
- Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China
| | - Yun Liao
- Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China
| | - Bin Yang
- Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China
| | - Junlong Zhang
- Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China
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13
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Chen Z, Wu Y, Kong J, Li Y, Wang H, Zhao H, Wu Z. Insertion/deletion polymorphism in the 3' untranslated region of COL1A2 disrupts its interaction with microRNA-382 and leads to decreased susceptibility to osteoporotic fracture. J Cell Biochem 2019; 120:12402-12411. [PMID: 30825231 DOI: 10.1002/jcb.28506] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/04/2018] [Revised: 12/12/2018] [Accepted: 01/10/2019] [Indexed: 11/09/2022]
Abstract
A growing body of evidence has proved that the expression of COL1A2 is associated with a reduced risk of osteoporotic fracture. One single-nucleotide polymorphism (rs3917) located within the 3'-untranslated region of COL1A2 may "alter" binding site of miR-382 and thereby associated with the risk of osteoporotic fracture. Bioinformatic analysis, luciferase reporter assay, site-directed mutagenesis, Western blot and real-time PCR were performed in this study. In this study, we validated COL1A2 as a target of miR-382 in osteoblast. In addition, bone tissue samples were genotyped as wild-type rs3917, heterozygous rs3917, and homozygous rs3917. The expression of miR-382 was comparable between the genotype groups, whereas the expression of COL1A2 mRNA and protein was much higher in heterozygous rs3917 and homozygous rs3917 than the wild-type rs3917 group. Furthermore, we transfected the wild-type rs3917 and heterozygous rs3917 cells with miR-382 mimics or inhibitors and found that the transfection with miR-382 mimics significantly increased the level of the miR-382 in the cells of both genotypes, and the introduction of miR-382 inhibitors substantially suppressed the level of miR-382 in both cells. In wild-type rs3917 cells, transfection of miR-382 mimics and COL1A2 small interfering RNA (siRNA) similarly and substantially downregulated the expression of COL1A2, while in heterozygous rs3917 cells, only COL1A2 siRNA notably reduced the expression of COL1A2, whereas introduction of miR-382 mimics left expression of COL1A2 intact. The findings showed rs3917 polymorphism interfered with the interaction between COL1A2 mRNA and miR-382, and minor allele is associated with a reduced risk of osteoporotic fracture.
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Affiliation(s)
- Ziqi Chen
- Department of Spinal Surgery, Orthopedic Hospital of Xingtai, Xingtai, Hebei, China
| | - Yanping Wu
- Department of Pediatrics, First Hospital of Xingtai, Xingtai, Hebei, China
| | - Jianjun Kong
- Department of Spinal Surgery, Orthopedic Hospital of Xingtai, Xingtai, Hebei, China
| | - Yan Li
- Department of Spinal Surgery, Orthopedic Hospital of Xingtai, Xingtai, Hebei, China
| | - Hongbin Wang
- Department of Orthopedic and Trauma Surgery, Orthopedic Hospital of Xingtai, Xingtai, Hebei, China
| | - Hongbin Zhao
- Department of Orthopedics, First Hospital of Xingtai, Xingtai, Hebei, China
| | - Zhanyong Wu
- Department of Spinal Surgery, Orthopedic Hospital of Xingtai, Xingtai, Hebei, China
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Lin J, Ye Q, Wang Y, Wang Y, Zeng Y. Association between XRCC1 single-nucleotide polymorphisms and susceptibility to nasopharyngeal carcinoma: An update meta-analysis. Medicine (Baltimore) 2018; 97:e11852. [PMID: 30095663 PMCID: PMC6133630 DOI: 10.1097/md.0000000000011852] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/04/2023] Open
Abstract
BACKGROUND Many studies have investigated polymorphisms of X-ray repair cross-complementing protein 1 (XRCC1) and risk of nasopharyngeal carcinoma (NPC), but the results are somewhat contradictory in different studies. There is an urgent need to keep in step with the relevant observational studies to more comprehend the effects of XRCC1 variants on the NPC risk. METHODS A systematic literature search accompanied with meta-analysis was carried out to obtain a detailed evaluation on the association between XRCC1 polymorphisms and NPC risk. RESULTS Meta-analyses showed that there was no statistically significant association observed between Arg194Trp/Arg280His variants in the XRCC1 gene and NPC risk with all genetic models, when relatively larger samples were pooled into the update meta-analysis. The reassessment suggested NPC risk was significantly increased with Arg399Gln polymorphism. The significant association was identified in homozygous, recessive, and allelic models, more than previously reported. CONCLUSION We confirmed that Arg399Gln polymorphism of XRCC1 gene is a potential predictor for susceptibility to NPC, especially for Asians. More studies are required to evaluate the association in different populations.
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Affiliation(s)
- Juan Lin
- Department of Otorhinolaryngology Department of Laboratory, Provincial Clinical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou, Fujian, China
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15
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Nejati-Azar A, Alivand MR. miRNA 196a2(rs11614913) & 146a(rs2910164) polymorphisms & breast cancer risk for women in an Iranian population. Per Med 2018; 15:279-289. [PMID: 29965793 DOI: 10.2217/pme-2017-0088] [Citation(s) in RCA: 16] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Abstract
AIM The purpose of our study was to analyze association of miRNAs 146aG/C(2910164) and 196a2C/T(11614913) polymorphism with breast cancer (BC) risk for women of Azeri ethnicity in Iran. MATERIALS & METHODS In the current case (n = 200)-control (n = 200) study, miRNAs 146aG/C(2910164) and 196a2C/T(11614913) were investigated for allelic and genotypic levels via the PCR-restriction fragment length polymorphism technique. RESULTS The statistical analysis showed a significant relation between CC genotype of rs11614913(196a2) (codominant, odds ratio (OR) = 0.58, p = 0.02236; recessive, OR = 2.92, p = 0.01695; overdominant, OR = 0.44, p = 0.0113) and BC susceptibility. The subgroup analysis of mentioned polymorphism declared the significant correlation (p ≤ 0.05) of the positive abortion, regular menstruation, positive human epidermal receptor-2 and positive estrogen receptor with BC susceptibility in CC genotype. CONCLUSION The existence of a C-allele at miRNA 196a2(11614913) elevates women's BC susceptibility in Azeri ethnicity in Iran.
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Affiliation(s)
- Asma Nejati-Azar
- Department of Biology, Faculty of Basic Science, Tabriz Branch Islamic Azad University, Tabriz, Iran
| | - Mohammad Reza Alivand
- Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.,Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
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16
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Yadav U, Kumar P, Rai V. “NQO1Gene C609T Polymorphism (dbSNP: rs1800566) and Digestive Tract Cancer Risk: A Meta-Analysis.”. Nutr Cancer 2018; 70:557-568. [DOI: 10.1080/01635581.2018.1460674] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Affiliation(s)
- Upendra Yadav
- Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India
| | - Pradeep Kumar
- Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India
| | - Vandana Rai
- Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India
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17
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Association between interleukin family gene polymorphisms and recurrent aphthous stomatitis risk. Genes Immun 2018; 20:90-101. [DOI: 10.1038/s41435-018-0019-y] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2017] [Revised: 11/16/2017] [Accepted: 11/16/2017] [Indexed: 11/08/2022]
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18
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Li H, Diao S, Li J, Ma B, Yuan S. An updated meta-analysis of 23 case-control studies on the association between miR-34b/c polymorphism and cancer risk. Oncotarget 2018; 8:28888-28896. [PMID: 28415817 PMCID: PMC5438700 DOI: 10.18632/oncotarget.16322] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/15/2016] [Accepted: 02/27/2017] [Indexed: 01/29/2023] Open
Abstract
The association between in microRNA-34b/c gene rs4938723 polymorphisms and cancer risk remains inconclusive. This meta-analysis was performed to analyze the association between microRNA-34b/c rs4938723 polymorphism and risk for cancer development. In total, 304 studies from PubMed, Embase, Web of Science, Wanfang, and Chinese National Knowledge Infrastructure databases were examined, and 23 studies were included in this meta-analysis. The 23 selected studies involved 10,812 cancer cases and 11,719 controls. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to measure the strength of the association. Our results indicate a significant association between the rs4938723 polymorphism and cancer risk in the overdominant model (P heterogeneity = 0.018, OR = 1.093, and 95% CI = 1.015-1.177 for CT vs. CC/TT). Using a stratified subgroup analysis, rs4938723 polymorphisms were associated with an increased risk for hepatocellular carcinoma, but decreased risk for colorectal, gastric, and esophageal squamous cell cancer. These findings indicate that the rs4938723 gene is a susceptible locus for cancer.
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Affiliation(s)
- Hua Li
- Department of Oncology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, China
| | - Shuling Diao
- Department of Cardiology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, China
| | - Jingsen Li
- Department of Cardiology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, China
| | - Baoxin Ma
- Department of Cardiology, The Affiliated Hospital of Binzhou Medical University, Binzhou, Shandong 256603, China
| | - Shuanghu Yuan
- Department of Radiotherapy, Shandong Cancer Hospital and Institute, Jinan, Shandong 250117, China
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Liu Y, He A, Liu B, Zhong Y, Liao X, Yang J, Chen J, Wu J, Mei H. rs11614913 polymorphism in miRNA-196a2 and cancer risk: an updated meta-analysis. Onco Targets Ther 2018; 11:1121-1139. [PMID: 29535537 PMCID: PMC5840307 DOI: 10.2147/ott.s154211] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022] Open
Abstract
Several epidemiological studies have reported that polymorphisms in microRNA-196a2 (miR-196a2) were associated with various cancers. However, the results remained unverified and were inconsistent in different cancers. Therefore, we carried out an updated meta-analysis to elaborate the effects of rs11614913 polymorphism on cancer susceptibility. A total of 84 articles with 35,802 cases and 41,541 controls were included to evaluate the association between the miR-196a2 rs11614913 and cancer risk by pooled odds ratios (ORs) and 95% confidence intervals (CIs). The results showed that miR-196a2 rs11614913 polymorphism is associated with cancer susceptibility, especially in lung cancer (homozygote comparison, OR =0.840, 95% CI =0.734-0.961; recessive model, OR =0.858, 95% CI =0.771-0.955), hepatocellular carcinoma (allelic contrast, OR =0.894, 95% CI =0.800-0.998; homozygote comparison, OR =0.900, 95% CI =0.813-0.997; recessive model, OR =0.800, 95% CI =0.678-0.944), and head and neck cancer (allelic contrast, OR =1.076, 95% CI =1.006-1.152; homozygote comparison, OR =1.214, 95% CI =1.043-1.413). In addition, significant association was found among Asian populations (allele model, OR =0.847, 95% CI =0.899-0.997, P=0.038; homozygote model, OR =0.878, 95% CI =0.788-0.977, P=0.017; recessive model, OR =0.895, 95% CI =0.824-0.972, P=0.008) but not in Caucasians. The updated meta-analysis confirmed the previous results that miR-196a2 rs11614913 polymorphism may serve as a risk factor for patients with cancers.
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Affiliation(s)
- Yuhan Liu
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Anbang He
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
- Department of Urology, Peking University First Hospital, The Institute of Urology, Peking University, National Urological Cancer Centre, Beijing, China
| | - Baoer Liu
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Yucheng Zhong
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Xinhui Liao
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Jiangeng Yang
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Jieqing Chen
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Jianting Wu
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
| | - Hongbing Mei
- Department of Urology, Shenzhen Second People’s Hospital, The First Affiliated Hospital of Shenzhen University, Shenzhen, China
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Liu X, You L, Zhou R, Zhang J. Significant association between functional microRNA polymorphisms and coronary heart disease susceptibility: a comprehensive meta-analysis involving 16484 subjects. Oncotarget 2018; 8:5692-5702. [PMID: 28035059 PMCID: PMC5351582 DOI: 10.18632/oncotarget.14249] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2016] [Accepted: 11/30/2016] [Indexed: 01/29/2023] Open
Abstract
Molecular epidemiological studies suggest that microRNA polymorphisms may be associated with an increased risk of coronary heart disease (CHD). However, the results of these studies were inconsistent and inconclusive. To derive a more precise evaluation, we performed a meta-analysis focused on the associations between microRNA polymorphisms and CHD risk. PubMed, Embase, CNKI and Wanfang databases were searched. Odds ratios (ORs) with 95% confidence intervals (CIs) were applied to assess the association between microRNA-146a rs2910164, microRNA-196a2 rs11614913, microRNA-499 rs3746444 and microRNA-149 rs71428439 polymorphisms and CHD susceptibility. Heterogeneity, publication bias and sensitivity analysis were conducted to measure the robustness of our findings. A total of thirteen related studies involving 8,120 patients and 8,364 controls were analyzed. Significant associations between microRNA-146a rs2910164 polymorphism and CHD risk were observed in the total population, as well as in subgroup analysis. For microRNA-196a2 rs11614913 and microRNA-499 rs3746444, similarly increased risks were also found. In addition, no significant association was detected between microRNA-149 rs71428439 polymorphism and CHD risk. In conclusion, our meta-analyses suggest that microRNA polymorphisms may be associated with increased risk of CHD development.
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Affiliation(s)
- Xu Liu
- Department of Neurology, First Affiliated Hospital of China Medical University, Liaoning, Shenyang 110001, China
| | - Lianghao You
- Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, China, Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110122, China
| | - Ruizhi Zhou
- Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, China, Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110122, China
| | - Jian Zhang
- Department of Cell Biology, Key Laboratory of Cell Biology, Ministry of Public Health, China, Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University, Shenyang 110122, China
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21
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Wang J, Kong X, Xing Z, Wang X, Zhai J, Fang Y, Gao J. A meta-analysis: Is there any association between MiR-608 rs4919510 polymorphism and breast cancer risks? PLoS One 2017; 12:e0183012. [PMID: 28829821 PMCID: PMC5568721 DOI: 10.1371/journal.pone.0183012] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2016] [Accepted: 07/14/2017] [Indexed: 01/11/2023] Open
Abstract
Object To combine the data from previously conducted studies about the associations between miR-608 rs4919510 polymorphism (C>G) and breast cancer risks. Methods According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted a systematic review of the related literatures searched from PubMed, Embase, Cochrane Library, Web of Science, and China National Knowledge Internet (CNKI) (time: ~ December 2016). Using DerSimonian-Laird random-effects models [Pooling Model: Mantel Haenszel (MH)], odd ratios (ORs) with 95% confidence intervals (95% CIs) were estimated in the allele model, homozygote model, heterozygote model, dominant model and recessive model. Heterogeneity was analyzed using Labbr plots and I2 statistic. Publication bias was analyzed using contour-enhanced funnel plots. Results We included 5 eligible studies with 7948 patients. The ORs and their 95% CIs in the 5 genetic models mentioned above were 1.009 (95% CI: 0.922, 1.104; p = 0.847), 1.098 (95% CI: 0.954, 1.264; p = 0.194), 1.076 (95% CI: 0.956, 1.211; p = 0.227), 1.043 (95% CI: 0.880, 1.236; p = 0.628), 1.007 (95% CI: 0.906, 1.118; p = 0.899), respectively. Conclusion In the present meta-analysis, no relationships between miR-608 rs4919510 polymorphism (C>G) and the risk of breast cancer were found. More studies are warranted to further validate the conclusion.
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Affiliation(s)
- Jing Wang
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
| | - Xiangyi Kong
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
| | - Zeyu Xing
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
| | - Xiangyu Wang
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
| | - Jie Zhai
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
| | - Yi Fang
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
- * E-mail: (YF); (JG)
| | - Jidong Gao
- Department of Breast Surgical Oncology, China National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Chaoyangqu, Panjiayuan, Beijing, P. R. China
- * E-mail: (YF); (JG)
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22
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Shi Q, Cai C, Xu J, Liu J, Liu H, Huo N. Is there an association between IFN-γ +874A/T polymorphism and periodontitis susceptibility?: A meta-analysis. Medicine (Baltimore) 2017; 96:e7288. [PMID: 28640144 PMCID: PMC5484252 DOI: 10.1097/md.0000000000007288] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
Abstract
BACKGROUND Interferon-γ (IFN-γ) is a key proinflammatory cytokine which plays a critical role in the pathogenesis and progression of periodontitis. The single nucleotide polymorphism of +874A/T in human IFN-γ gene can influence the secretion of IFN-γ and affect periodontitis susceptibility. However, the findings of published studies are inconsistent. Therefore, the goal of this meta-analysis is to investigate whether there is an association between IFN-γ +874A/T polymorphism and periodontitis susceptibility. METHODS PubMed and the Cochrane Library were searched for eligible clinical studies. The odds ratio (OR) and 95% confidence interval (CI) of each study were pooled to estimate the strength of association between +874A/T and periodontitis. Subgroup analyses were performed to explore whether particular characteristics of studies were related to the overall results. RESULTS Seven studies and a total of 1252 periodontitis patients and 1622 periodontitis-free control subjects were included. No difference was observed in genotype distribution and allele frequency between periodontitis patients and control (T vs A: OR = 1.01, 95% CI: 0.90-1.13, P = .878; TT vs AA: OR = 1.07, 95% CI: 0.87-1.32, P = .537; AT vs AA: OR = 1.00, 95% CI: 0.81-1.23, P = .996; TT+AT vs AA: OR = 1.00, 95% CI: 0.84-1.19, P = .990; TT vs AA+AT: OR = 1.03, 95% CI: 0.86-1.23, P = .733). Besides, the subgroup analysis based on ethnicity, type of periodontitis, and smoking status failed to identify significant differences in each model, either. CONCLUSIONS The results of this meta-analysis suggest that IFN-γ +874 A/T polymorphism may not contribute to periodontitis susceptibility. High quality and well-designed studies which combine genetic and other environmental risk factors are needed to validate this conclusion in the future.
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Ranjha R, Meena NK, Singh A, Ahuja V, Paul J. Association of miR-196a-2 and miR-499 variants with ulcerative colitis and their correlation with expression of respective miRNAs. PLoS One 2017; 12:e0173447. [PMID: 28301487 PMCID: PMC5354276 DOI: 10.1371/journal.pone.0173447] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/07/2016] [Accepted: 02/22/2017] [Indexed: 01/01/2023] Open
Abstract
Background and aim MicroRNAs are small non-coding RNAs that play an important role in regulating the gene expression of their target genes. SNP miR-196a-2 rs11614913 and miR-499 rs3746444 are reported to have association with the risk and prognosis of multiple-types of inflammatory diseases including IBD. This study was conducted to show if any association of SNP miR-196a-2rs11614913 and miR-499 rs3746444 exists with ulcerative colitis (UC) patients of north Indian population and how these polymorphisms modulate the expression profile of the respective miRNAs. Methods A total of 638 participants including 197 UC patients and 441 controls were included in this study. Polymorphisms were genotyped by PCR-RFLP and the miRNA expression was measured using qRT-PCR. Genotypes and allele frequencies were calculated using SPSS 16 software. Results MiR-196a-2 rs11614913 (C>T) and miR-499 rs3746444 (T>C) were found to be associated with UC. TT genotype of miR-196a-2 rs11614913 (p = 0.03) was negatively associated with UC whereas the heterozygous TC genotype of miR-499 rs3746444 (p = 0.003) was showing positive association with UC. Patients having a combination of both SNPs, developed disease at older age and they suffered from severe disease extent. Genotype that showed association with the disease also showed correlation with the changes in miRNA expression. Conclusion In this study we found miR-196a-2 rs11614913 and miR-499 rs3746444 were associated with UC in north Indian population. We found the genotype that showed association with UC also altered the expression of respective miRNA in the patient harboring the genotype. There was correlation between associated genotype and altered miRNA expression.
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Affiliation(s)
- Raju Ranjha
- School of Life Sciences, Jawaharlal Nehru University, New Delhi, India
| | | | - Abhiraman Singh
- School of Life Sciences, Jawaharlal Nehru University, New Delhi, India
| | - Vineet Ahuja
- Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India
| | - Jaishree Paul
- School of Life Sciences, Jawaharlal Nehru University, New Delhi, India
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A single nucleotide variant in microRNA-1269a promotes the occurrence and process of hepatocellular carcinoma by targeting to oncogenes SPATS2L and LRP6. Bull Cancer 2017; 104:311-320. [PMID: 28081866 DOI: 10.1016/j.bulcan.2016.11.021] [Citation(s) in RCA: 26] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2016] [Revised: 11/15/2016] [Accepted: 11/27/2016] [Indexed: 01/02/2023]
Abstract
Hepatocellular carcinoma (HCC) is one of the malignant and lethal cancers. Single nucleotide polymorphisms (SNPs) in microRNAs(miRNAs) can affect the expression and target identification of miRNAs and lead to the formation of malignant tumors. However, little is known about whether microRNA-1269a (miR-1269a) SNPs affect the susceptibility and progression of HCC or their specific mechanism. The association between microRNA-1269a rs73239138 and the susceptibility to HCC was verified by MassARRAY assay in a large case-control sample. The effect of miR-1269a and the variant on the proliferation and apoptosis of HCC cells was examined by flow cytometry (FCM), CCK8 assay and Western blot. The target of miR-1269a was identified by bioinformatics analysis and qRT-PCR and its role on cell proliferative capacity was examined by CCK8 assay. The expression level of miR-1269a was analyzed by qRT-PCR in HCC cells transfected with wild or variant type pre-miR-1269a plasmid.MiR-1269a produced a tumor suppressor effect by inhibiting cell proliferation and inducing apoptosis of human HCC cells, possibly via inhibiting the expression of its target genes SPATS2L and LRP6, which were tumor promoters. While, rs73239138 (G>A) in miR-1269a reduced the anticancer effect of miR-1269a possibly by attenuating its total amount in HCC cells or its target recognition, reduce its inhibition on target genes and promoted the susceptibility to HCC. Our findings for the first time proved that miR-1269a SNP plays a role in the occurrence and process of HCC and the relevant mechanism, in accompany with the discovery of the novel target genes of miR-1269a.
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Bilbao-Aldaiturriaga N, Askaiturrieta Z, Granado-Tajada I, Goričar K, Dolžan V, For The Slovenian Osteosarcoma Study Group, Garcia-Miguel P, Garcia de Andoin N, Martin-Guerrero I, Garcia-Orad A. A systematic review and meta-analysis of MDM2 polymorphisms in osteosarcoma susceptibility. Pediatr Res 2016; 80:472-9. [PMID: 27438225 DOI: 10.1038/pr.2016.120] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/11/2016] [Accepted: 04/21/2016] [Indexed: 01/05/2023]
Abstract
Two polymorphisms in the murine double minute 2 (MDM2) gene (rs1690916 and rs2279744) have been associated with the risk of osteosarcoma (OS). When we analyzed these two polymorphisms in two new independents cohorts (Spanish and Slovenian), we found no association. In order to clarify this, we conducted a meta-analysis including six populations, with a total of 246 OS patients and 1,760 controls for rs1690916; and 433 OS patients and 1,959 controls for rs2279744. Pooled odds ratio risks and corresponding 95% CI were estimated to assess the possible associations. Our results showed that these two polymorphisms were not associated with the susceptibility of OS under any genetic model studied. In conclusion, the present meta-analysis indicates that MDM2 rs1690916 and rs2279744 cannot be considered as genetic risk factors for OS susceptibility in the different populations. Therefore, the influence of these two polymorphisms on the risk of OS may be less important than previously suggested. Future studies are needed to confirm these results.
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Affiliation(s)
- Nerea Bilbao-Aldaiturriaga
- Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country, UPV/EHU, Spain
| | - Ziortza Askaiturrieta
- Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country, UPV/EHU, Spain
| | - Itsasne Granado-Tajada
- Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country, UPV/EHU, Spain
| | - Katja Goričar
- Institute of Biochemistry, Faculty of Medicine, Ljubljana, Slovenia
| | - Vita Dolžan
- Institute of Biochemistry, Faculty of Medicine, Ljubljana, Slovenia
| | | | | | | | - Idoia Martin-Guerrero
- Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country, UPV/EHU, Spain
| | - Africa Garcia-Orad
- Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Medicine and Odontology, University of the Basque Country, UPV/EHU, Spain
- BioCruces Health Research Institute, Barakaldo, Spain
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Meta-analysis of cyclooxygenase-2 (COX-2) 765G>C polymorphism and Alzheimer’s disease. J Clin Neurosci 2016; 31:4-9. [DOI: 10.1016/j.jocn.2015.11.032] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/18/2015] [Accepted: 11/30/2015] [Indexed: 01/19/2023]
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Toraih EA, Fawzy MS, Mohammed EA, Hussein MH, EL-Labban MM. MicroRNA-196a2 Biomarker and Targetome Network Analysis in Solid Tumors. Mol Diagn Ther 2016; 20:559-577. [DOI: 10.1007/s40291-016-0223-2] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/05/2023]
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Zhao H, Zhang J, Zhang M, Deng F, Zheng L, Zheng H, Chen F, Lin J. Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis. F1000Res 2016; 4:142. [PMID: 26834978 PMCID: PMC4722688 DOI: 10.12688/f1000research.6425.2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/07/2015] [Indexed: 12/15/2022] Open
Abstract
Aims: To investigate the association between the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) polymorphism rs 2236225 (c.1958G>A) and susceptibility to non-syndromic cleft of the lip and/or palate (NSCL/P). Methods: An extensive literature review has been conducted using PubMed, Web of Science, Cochrane Library, Google Scholar, the China National Knowledge Infrastructure (CNKI), and Wanfang Database for eligible researches. The terms for searching were “cleft lip OR cleft palate OR CLP OR CL/P OR oral facial cleft OR OFC” AND “methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 OR methenyltetrahydrofolate cyclohydrolase formyltetrahydrofolate synthetase OR MTHFD1 OR MTHFD”. Two independent researchers screened, evaluated and extracted the data of included studies. The pooled odds ratios (OR) with 95% confidence intervals (95% CI) were calculated by random effects model under five gene models. Subgroup, sensitivity analysis and publication bias were also assessed. Results: Ten case-control studies have been included in the systematic review and eight studies have been considered for the meta-analysis. Overall, the MTHFD1 polymorphism rs2236225 and the risk of NSCL/P showed pooled OR (95% CI) of 1.02 (0.86-1.21) under allelic model. A higher degree of heterogeneity was observed in Asian countries (I
2 = 75.6%) compared to non-Asian countries (I
2 = 48.9%). Similar consequence appeared in the subgroup of children (I
2 = 78.6%) compared with that of mothers (I
2 = 0.0%). There was no significant difference in the publication bias by the Begg’s funnel plot (P = 0.711) and Egger’s regression test (P = 0.746). Conclusion: Our assessment suggested there was no significant association between the MTHFD1 polymorphism rs 2236225 (c.1958G>A) and the susceptibility to NSCL/P. Further investigations using a large sample size and a more advanced technique should be adopted to reach a more precise conclusion in the future.
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Affiliation(s)
- Huaxiang Zhao
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Jieni Zhang
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Mengqi Zhang
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Feng Deng
- Bybo Dental Group, Beijing, 100062, China
| | - Leilei Zheng
- Department of Orthodontics, Affiliated Hospital of Stomatology, Chongqing Medical University, Chongqing, 401147, China
| | - Hui Zheng
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Feng Chen
- Laboratory Center, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Jiuxiang Lin
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
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Xu X, Ling Q, Wang J, Xie H, Wei X, Lu D, Hu Q, Zhang X, Wu L, Zhou L, Zheng S. Donor miR-196a-2 polymorphism is associated with hepatocellular carcinoma recurrence after liver transplantation in a Han Chinese population. Int J Cancer 2016; 138:620-629. [PMID: 26365437 DOI: 10.1002/ijc.29821] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/05/2015] [Accepted: 07/28/2015] [Indexed: 01/05/2023]
Abstract
Recurrence of hepatocellular carcinoma (HCC) is one of the leading causes of death after liver transplantation (LT). We aim to evaluate the association of donor and recipient single nucleotide polymorphisms (SNPs) with the risk of HCC recurrence after LT. A total of 155 adult patients who underwent primary LT for HCC were enrolled. Ten SNPs associated with HCC susceptibility were genotyped. Patients who received donor livers with the rs11614913 homozygous CC variant presented significantly higher recurrence rates of HCC (41.7 vs. 15.3%, p = 0.009) and lower cumulative tumor-free survival (p = 0.005) than those who received TT wild-type donor livers. The donor rs11614913 genetic variant was an independent risk factor for HCC recurrence (odds ratio = 2 per each C allele, p < 0.05) and could significantly improve the predictive abilities of clinical models (Milan, UCSF and Hangzhou criteria). Donor livers homozygous for rs11614913 CC were associated with a higher miR-196a expression than TT (p = 0.002). In a lentiviral infection of mouse liver and orthotopic mouse model of HCC, the liver miR-196a overexpression group showed a significantly larger tumor size than the control group (p = 0.001). There is a close association between the tumor size and expression of miR-196a in the liver (r = 0.693, p = 0.001). In conclusion, the donor miR-196a-2 rs11614913 polymorphism is associated with HCC recurrence after LT and improves the predictive value of clinical models. The overexpression of miR-196a in the liver might provide a tumor-favorable environment for the development of HCC.
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Affiliation(s)
- Xiao Xu
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
- Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou, China
| | - Qi Ling
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
- Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou, China
| | - Jianguo Wang
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Haiyang Xie
- Key Laboratory of Combined Multi-Organ Transplantation, Ministry of Public Health, Hangzhou, China
| | - Xuyong Wei
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Di Lu
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Qichao Hu
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Xuanyu Zhang
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
| | - Liming Wu
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
- Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou, China
| | - Lin Zhou
- Key Laboratory of Combined Multi-Organ Transplantation, Ministry of Public Health, Hangzhou, China
| | - Shusen Zheng
- Division of Hepatobiliary and Pancreatic Surgery, Department of Surgery, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
- Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Hangzhou, China
- Key Laboratory of Combined Multi-Organ Transplantation, Ministry of Public Health, Hangzhou, China
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Wang T, Zhu M, Liang BM, Liang ZA, Ji YL. Interleukin-17F 7488T/C polymorphism is associated with protection against asthma: a meta-analysis. Int J Clin Exp Med 2015; 8:22270-22277. [PMID: 26885203 PMCID: PMC4729989] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/19/2015] [Accepted: 12/04/2015] [Indexed: 06/05/2023]
Abstract
The association between interleukin-17F (IL-17F) 7488T/C polymorphism and asthma risk is conflicting. This study conducted a meta-analysis by pooling all available data to make a more precise estimation of the association. Electronic databases PubMed, EMBASE, and China National Knowledge Infrastructure were searched to identify all eligible studies assessing the association between IL-17F 7488T/C polymorphism and asthma risk. The pooled odds ratios (ORs) with corresponding 95% confidence intervals (95% CIs) were calculated. A total of five case-control studies with 1445 cases and 1608 controls were included. Overall, the pooled ORs showed that the IL-17F 7488T/C polymorphism was inversely associated with risk of asthma (OR=0.29, 95% CI=[0.12, 0.70]) using recessive genetic model. Furthermore, this association was found to be exclusive to Asians (OR=0.31, 95% CI= [0.12, 0.84]). Sensitivity analysis by omission of single study in turn showed similar results. In conclusion, the present meta-analysis suggested that homozygote of IL-17F 7488T/C variant could protect against asthma in Asians. However, more studies conducted in different ethnic groups with large sample size are warranted to validate the precise association.
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Affiliation(s)
- Ting Wang
- Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University Chengdu 610041, P. R. China
| | - Min Zhu
- Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University Chengdu 610041, P. R. China
| | - Bin-Miao Liang
- Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University Chengdu 610041, P. R. China
| | - Zong-An Liang
- Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University Chengdu 610041, P. R. China
| | - Yu-Lin Ji
- Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University Chengdu 610041, P. R. China
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Kumar P, Yadav U, Rai V. Methylenetetrahydrofolate reductase gene C677T polymorphism and breast cancer risk: Evidence for genetic susceptibility. Meta Gene 2015; 6:72-84. [PMID: 26629412 PMCID: PMC4634353 DOI: 10.1016/j.mgene.2015.08.008] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/09/2015] [Revised: 08/21/2015] [Accepted: 08/31/2015] [Indexed: 12/11/2022] Open
Abstract
There are several evidences supporting the role of 5-10 methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in breast cancer (BC). Case control association studies on breast cancer have been repeatedly performed over the last two decades, but results are inconsistent. We performed a meta-analysis to confirm the association between MTHFR C677T polymorphism and BC risk. The articles were retrieved by searching the PubMed, Google Scholar, and Springer Link databases. Crude odds ratios (OR) with 95% confidence intervals (CIs) was used to assess the strength of association between C677T polymorphism and BC. Publication bias was assessed by Egger's and Begg-Mazumdar tests. Meta-analysis was performed with Open Meta Analyst. Total 75 studies with 31,315 cases and 35, 608 controls were found suitable for the inclusion in the present meta-analysis. The results of meta-analysis suggested that there were moderate significant association between C677T polymorphism and BC risk using overall comparisons in five genetic models (T vs. C: OR = 1.08, 95% CI = 1.03-1.13, p = < 0.001; TT + CT vs. CC: OR = 1.06, 95% CI = 1.02-1.09, p = < 0.001; TT vs. CC: OR = 1.17, 95% CI = 1.06-1.28, p = 0.001; CT vs. CC OR = 1.05, 95% CI = 1.01-1.08, p = 0.005; TT vs. CT + CC: OR = 1.12, 95% CI = 1.03-1.22, p = 0.005). In conclusion, results of present meta-analysis showed modest association between MTHFR C677T polymorphism with breast cancer in total studies. However, sub-group analysis results based on ethnicity showed strong significant association between TT genotype and breast cancer (TT vs. CC; OR°=°1.26; 95% CI: 1.06-1.51; p = 0.009) in Asian population but in Caucasian population such association was not observed (TT vs. CC; OR°=°1.08; 95% CI: 0.99-1.14; p = 0.05).
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Affiliation(s)
| | | | - Vandana Rai
- Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur 222 003, UP, India
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Zhu J, Su J, Liu R, Yang J. Relationship between the FAS gene A-670G polymorphism and Alzheimer's disease: a meta-analysis. Aging Clin Exp Res 2015; 27:563-71. [PMID: 25809055 DOI: 10.1007/s40520-015-0351-2] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/08/2014] [Accepted: 02/16/2015] [Indexed: 12/28/2022]
Abstract
BACKGROUNDS AND AIMS The pathogenetic mechanism of Alzheimer's disease (AD) is still unknown; however, gene polymorphism may play a critical role in the pathogenesis of AD. The aim of this meta-analysis was to evaluate the association between FAS gene A-670G polymorphism and AD. METHODS We searched all related subjects in PubMed, Embase, Cochrane Library, SinoMed, and the China Knowledge Resource Integrated Database and identified seven studies reporting a relationship between the A-670G polymorphism in the FAS gene and AD. RESULTS A total of 1512 cases and 1707 controls were included in the seven studies. The meta-analyses results suggested no significant association between the A-670G polymorphism and AD in any genetic models. When a subgroup analysis was conducted by ethnicity, the A-670G polymorphism was also not relevant to AD. However, when stratified by age, the GG genotype increased the risk of early-onset AD. We also found that the A-670G polymorphism was related to patients with AD who carried the apolipoprotein-E ε4 allele in three genetic models. CONCLUSIONS To sum up, our data suggested that the FAS gene A-670G polymorphism may not be associated with AD. When a subgroup analysis was conducted by ethnicity, the A-670G polymorphism was also not related with AD in Asian and Caucasian population. However, the FAS-670 GG genotype may increase the risk of AD in the younger population (age, ≤65 years). Furthermore, we found that the A-670G polymorphism was related to patients with AD who carried the APOE4 allele in dominant, allele and homozygous models.
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Abstract
The associations of SNPs rs11614913, rs2292832, and rs2910164 in miRNAs have been exploded in several independent studies and meta-analyses, but the small sample sizes and incomplete data precluded well-defined roles of the miRNA SNPs in the development of CRC. The aim of this study was to combine all available data to comprehensively assess the unclear association. A meta-analysis of nine studies included 2,209 cancers and 2,803 controls, 2,349 cases and 2,663 controls, and 1,409 cases and 1,115 controls for SNP rs11614913, SNP rs2910164, and SNP rs2292832, respectively. The true effect size was estimated by an odds ratio (OR) and 95 % confidence intervals (CI) with the fixed effects model. For SNP rs11614913, the risk of CRC was more pronounced in the C allele carriers as compared with the T allele carriers among the subjects of Asian decent (CC vs. TT: OR = 1.18, 95% CI 1.01-1.38, P = 0.734; CC vs. TC + TT: OR = 1.18, 95% CI 1.02-1.36, P = 0.573; C vs. T: OR = 1.08, 95% CI 1.00-1.17, P = 0.775). SNP rs2910164 and SNP rs2292832 were not found to be significantly associated with CRC risk. This meta-analysis reveals that SNP rs11614913, but not SNP rs2910164 and SNP rs2292832, may contribute to susceptibility to CRC in an Asian-specific manner.
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Tang W, Yu P, Wang Y, Kang M, Sun B, Yin J, Gu H. Lack of association between cyclin D1 A870G (rs9344) polymorphism and esophageal squamous cell carcinoma risk: case-control study and meta-analysis. Int J Clin Exp Med 2015; 8:12685-12695. [PMID: 26550182 PMCID: PMC4612867] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/08/2015] [Accepted: 08/06/2015] [Indexed: 06/05/2023]
Abstract
Studies examining the association between the cyclin D1 (CCND1) A870G (rs9344 G>A) polymorphism and esophageal squamous cell carcinoma (ESCC) have yielded inconsistent results. Here, we conducted a hospital-based case-control study in a Chinese Han population to assess the association between the CCND1 A870G polymorphism and ESCC. We then performed a meta-analysis to further investigate this association. We recruited 629 patients with ESCC and 686 cancer-free controls. Genotyping was performed with the polymerase chain reaction-ligase detection reactions (PCR-LDR) method. The meta-analysis was performed with the STATA 12.0 software. The case-control study showed no significant difference between the ESCC cases and controls in the allele frequencies or genotype distributions of the CCND1 A870G polymorphism. To obtain a more precise estimate of this relationship, we performed a meta-analysis of seven case-control studies involving a total of 2080 ESCC cases and 2833 controls. The meta-analysis suggested that the CCND1 A870G polymorphism is not associated with a risk of ESCC. A further subgroup analysis based on ethnicity also detected no association. This study suggests that the CCND1 A870G polymorphism is not associated with the risk of ESCC.
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Affiliation(s)
- Weifeng Tang
- Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu UniversityZhenjiang, China
| | - Ping Yu
- Department of Pharmaceutics, China Pharmaceutical UniversityNanjing, China
| | - Yafeng Wang
- Department of Cardiology, The People’s Hospital of Xishuangbanna Dai Autonomous PrefectureJinghong, Yunnan Province, China
| | - Mingqiang Kang
- Department of Thoracic Surgery, The Union Clinical Medical College of Fujian Medical UniversityFuzhou, Fujian Province, China
| | - Bin Sun
- Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu UniversityZhenjiang, China
| | - Jun Yin
- Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu UniversityZhenjiang, China
| | - Haiyong Gu
- Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu UniversityZhenjiang, China
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Tang W, Chen Y, Wang Y, Gu H, Chen S, Kang M. Peroxisome proliferator-activated receptor gamma (PPARG) polymorphisms and breast cancer susceptibility: a meta-analysis. Int J Clin Exp Med 2015; 8:12226-12238. [PMID: 26550133 PMCID: PMC4612818] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/04/2015] [Accepted: 07/12/2015] [Indexed: 06/05/2023]
Abstract
BACKGROUND Peroxisome proliferator-activated receptor gamma (PPARG), a nuclear hormone receptor, plays a critical role in the lipid and glucose homeostasis, adipocyte differentiation, as well as intracellular insulin-signaling events. Several studies have been conducted to explore the associations of PPARG polymorphisms with breast cancer (BC), yet the findings are inconsistent. METHODS Databases of Pubmed and Embase were searched until October 5, 2014. The association between PPARG polymorphisms and BC risk was determined by crude odds ratios (ORs) with their 95% confidence intervals (CIs). RESULTS Finally, there are nine publications involving 3,931 BC cases and 5,382 controls included in this meta-analysis. No significant association was observed between PPARG rs1801282 C>G variants and overall BC risk in all genetic comparison models. However, in a subgroup analysis by ethnicity, significant association was observed between PPARG rs1801282 C>G variants and decreased BC risk in three genetic models: GG+CG vs. CC (OR, 0.83; 95% CI, 0.71-0.96; P = 0.011), CG vs. CC (OR, 0.82; 95% CI, 0.71-0.96; P = 0.011) and G vs. C (OR, 0.85; 95% CI, 0.75-0.97; P = 0.016) in Caucasians and in a subgroup analysis by menopausal status, significantly decreased BC risk was also found in two genetic models: GG+CG vs. CC (OR, 0.79; 95% CI, 0.67-0.95; P = 0.011) and CG vs. CC (OR, 0.77; 95% CI, 0.64-0.92; P = 0.005) in post-menopause subgroup. For PPARG rs3856806 C>T, we found no significant association between PPARG rs3856806 C>T polymorphism and breast cancer. CONCLUSIONS In summary, despite some limitations, the results suggest that PPARG rs1801282 C>G polymorphism may be a protective factor for BC in Caucasians and in post-menopause women.
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Affiliation(s)
- Weifeng Tang
- Department of Thoracic Surgery, The Union Clinical Medical College of Fujian Medical UniversityFuzhou, Fujian Province, China
| | - Yuanmei Chen
- Department of Thoracic Surgery, Fujian Provincial Cancer HospitalFuzhou, Fujian Province, China
| | - Yafeng Wang
- Department of Cardiology, The People’s Hospital of Xishuangbanna Dai Autonomous PrefectureJinghong, Yunnan Province, China
| | - Haiyong Gu
- Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu UniversityZhenjiang, Jiangsu Province, China
| | - Shuchen Chen
- Department of Thoracic Surgery, The Union Clinical Medical College of Fujian Medical UniversityFuzhou, Fujian Province, China
| | - Mingqiang Kang
- Department of Thoracic Surgery, The Union Clinical Medical College of Fujian Medical UniversityFuzhou, Fujian Province, China
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Cheng L, Zhang D, Zhou L, Zhao J, Chen B. Association between SLC30A8 rs13266634 Polymorphism and Type 2 Diabetes Risk: A Meta-Analysis. Med Sci Monit 2015. [PMID: 26214053 PMCID: PMC4527121 DOI: 10.12659/msm.894052] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/21/2023] Open
Abstract
BACKGROUND Accumulating but inconsistent data about the role of rs13266634 variant of SLC30A8 in type 2 diabetes have been reported, partly due to small sample sizes and non-identical ethnicity. MATERIAL AND METHODS We searched PubMed and Cochrane Library to identify eligible studies and extract data of baseline characteristics, genotype count, odds ratio (OR), and 95% confidence interval (CI). Both adjusted OR with 95% CI and genotype counts were employed to assess the association. Genotype data were further pooled to provide estimates under different genetic models and the most appropriate model was determined. Sensitivity and cumulative analysis were conducted to assure the strength of results. RESULTS Fifty-five datasets of 39 studies (including 38 of 24 with genotype count) were included. Significant associations were found in allelic contrasts using adjusted ORs and raw genotype count, respectively, overall in Asian and European populations (overall: OR=1.147/1.157, 95% CI 1.114-1.181/1.135-1.180; Asian: OR=1.186/1.165, 95% CI 1.150-1.222/1.132-1.198; European: OR=1.100/1.151, 95% CI 1.049-1.153/1.120-1.183; All p=0.00), but not in African populations (African: OR=1.255/1.111, 95% CI 0.964-1.634/0.908-1.360, p=0.091/0.305). Further analysis with genotype count under different genetic models all showed that individuals with CC genotype had 33.0% and 16.5% higher risk of type 2 diabetes than those carrying TT and CT genotypes, respectively, under the most likely codominant model. Cumulative analysis indicated gradually improved precision of estimation after studies accumulated. CONCLUSIONS Our results suggest that rs13266634 may be an important genetic factor of type 2 diabetes risk among Asian and European but not African populations.
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Affiliation(s)
- Liqing Cheng
- Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China (mainland)
| | - Dongmei Zhang
- Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, China (mainland)
| | - Lina Zhou
- Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China (mainland)
| | - Jie Zhao
- Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China (mainland)
| | - Bing Chen
- Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China (mainland)
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Association between Int7G24A rs334354 polymorphism and cancer risk: a meta-analysis of case-control studies. Sci Rep 2015; 5:11350. [PMID: 26074400 PMCID: PMC4466893 DOI: 10.1038/srep11350] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/23/2015] [Accepted: 05/22/2015] [Indexed: 11/27/2022] Open
Abstract
Accumulating evidences have suggested the potential association between Int7G24A
(rs334354) polymorphism and cancer risk. However, results from epidemiological
studies are controversial. We thus conducted this meta-analysis to clarify the
association. Relevant studies were identified on electronic databases according to
the inclusion criteria. A total of 13 case-control studies containing 4092 cases and
5909 controls were included in our meta-analysis. Odds ratios (ORs) with 95%
confidence intervals (CIs) were applied to assess the association. The results of
the overall population had suggested that Int7G24A polymorphism had an increased
risk for cancer, reaching significant levels in the 2 genetic models (allele model,
OR = 1.25, 95% CI 1.09-1.42,
P = 0.001; dominant model,
OR = 1.24, 95% CI 1.06-1.46,
P < 0.008). Besides, significant association
was found among Asian population (allele model, OR = 1.27,
95% CI 1.11-1.45, P < 0.001; dominant model,
OR = 1.28, 95% CI 1.11-1.49,
P < 0.001), whereas there was non-significant
relationship detected among Caucasian population (allele model,
OR = 1.08, 95% CI 0.92-1.26,
P = 0.352; dominant model,
OR = 1.05, 95% CI 0.87-1.26,
P = 0.639). The present meta-analysis had suggested
that Int7G24A polymorphism of gene TGFBR1 involved in the transforming growth factor
beta (TGF-β) signaling pathway had a significantly increased risk for
cancer development.
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Zhao H, Zhang J, Zhang M, Deng F, Zheng L, Zheng H, Chen F, Lin J. Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis. F1000Res 2015; 4:142. [PMID: 26834978 PMCID: PMC4722688 DOI: 10.12688/f1000research.6425.1] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 12/07/2015] [Indexed: 09/29/2023] Open
Abstract
AIMS To investigate the association between the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) polymorphism rs 2236225 (c.1958G>A) and susceptibility to non-syndromic cleft of the lip and/or palate (NSCL/P). METHODS An extensive literature review has been conducted using PubMed, Web of Science, Cochrane Library, Google Scholar, the China National Knowledge Infrastructure (CNKI), and Wanfang Database for eligible researches. The terms for searching were "cleft lip OR cleft palate OR CLP OR CL/P OR oral facial cleft OR OFC" AND "methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 OR methenyltetrahydrofolate cyclohydrolase formyltetrahydrofolate synthetase OR MTHFD1 OR MTHFD". Two independent researchers screened, evaluated and extracted the data of included studies. The pooled odds ratios (OR) with 95% confidence intervals (95% CI) were calculated by random effects model under five gene models. Subgroup, sensitivity analysis and publication bias were also assessed. RESULTS Ten case-control studies have been included in the systematic review and eight studies have been considered for the meta-analysis. Overall, the MTHFD1 polymorphism rs2236225 and the risk of NSCL/P showed pooled OR (95% CI) of 1.02 (0.86-1.21) under allelic model. A higher degree of heterogeneity was observed in Asian countries (I (2) = 75.6%) compared to non-Asian countries (I (2) = 48.9%). Similar consequence appeared in the subgroup of children (I (2) = 78.6%) compared with that of mothers (I (2) = 0.0%). There was no significant difference in the publication bias by the Begg's funnel plot (P = 0.711) and Egger's regression test (P = 0.746). CONCLUSION Our assessment suggested there was no significant association between the MTHFD1 polymorphism rs 2236225 (c.1958G>A) and the susceptibility to NSCL/P. Further investigations using a large sample size and a more advanced technique should be adopted to reach a more precise conclusion in the future.
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Affiliation(s)
- Huaxiang Zhao
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Jieni Zhang
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Mengqi Zhang
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Feng Deng
- Bybo Dental Group, Beijing, 100062, China
| | - Leilei Zheng
- Department of Orthodontics, Affiliated Hospital of Stomatology, Chongqing Medical University, Chongqing, 401147, China
| | - Hui Zheng
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Feng Chen
- Laboratory Center, Peking University School and Hospital of Stomatology, Peking, 100081, China
| | - Jiuxiang Lin
- Department of Orthodontics, Peking University School and Hospital of Stomatology, Peking, 100081, China
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Effects of Two Common Polymorphisms rs2910164 in miR-146a and rs11614913 in miR-196a2 on Gastric Cancer Susceptibility. Gastroenterol Res Pract 2015; 2015:764163. [PMID: 25983750 PMCID: PMC4423019 DOI: 10.1155/2015/764163] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/30/2014] [Accepted: 10/25/2014] [Indexed: 12/12/2022] Open
Abstract
Background. Single nucleotide polymorphisms (SNPs) in genes encoding microRNAs may play important role in the development of gastric cancer. It has been reported that common SNPs rs2910164 in miR-146a and rs11614913 in miR-196a2 are associated with susceptibility to gastric cancer. The published results remain inconclusive or even controversial. A meta-analysis was conducted to quantitatively assess potential association between the two common SNPs and gastric cancer risk. Methods. A comprehensive literature search was performed in multiple internet-based electronic databases. Data from 12 eligible studies were extracted to estimate pooled odds ratios (ORs) and 95% confidence intervals (95% CI). Results. C allele of rs2910164 is associated with reduced gastric cancer risk in heterozygote model and dominant model whereas rs11614913 indicates no significant association. Subgroup analysis demonstrates that C allele of rs2910164 and rs11614913 may decrease susceptibility to diffuse type gastric cancer in dominant model and recessive model, respectively, while rs11614913 increased intestinal type gastric cancer in dominant model. Conclusion. SNPs rs2910164 and rs11614913 might have effect on gastric cancer risk in certain genetic models and specific types of cancer. Further well-designed studies should be considered to validate the potential effect.
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Li C, Fu W, Zhang Y, Zhou L, Mao Z, Lv W, Li J, Zhou Y. Meta-analysis of microRNA-146a rs2910164 G>C polymorphism association with autoimmune diseases susceptibility, an update based on 24 studies. PLoS One 2015; 10:e0121918. [PMID: 25830862 PMCID: PMC4382023 DOI: 10.1371/journal.pone.0121918] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2014] [Accepted: 02/05/2015] [Indexed: 12/23/2022] Open
Abstract
BACKGROUND Published data showed that the susceptibility of autoimmune diseases (ADs) was associated with the polymorphism rs2910164 in microRNA-146a (miR-146a). However, the results remain controversial so far. Two meta-analyses published in 2013 and 2014 came to opposite conclusions. In order to derive a more precise estimation of the relationship, we performed this meta-analysis. METHODS We searched the PubMed, OvidSP and CNKI databases (published prior to September 8th, 2014) and extracted data from eligible studies. The procedure of meta-analysis was performed by using the Stata 12.0 software. Random effect model or fixed effect model were chosen respectively, according to the between study heterogeneities. RESULTS A total of 24 case-control studies, 11 more than previous meta-analysis on this topic, were involved. We took stratified analyses by different ethnicities and different types of diseases in different genetic models. In Caucasian subgroup, significant increased risks of GC genotype and GC+CC genotype with ADs susceptibility were found in heterozygote model (GC vs GG, OR = 1.38, 95% CI 1.04-1.83, p = 0.024) and dominant model (GC+CC vs GG, OR = 1.37, 95% CI 1.01-1.85, p = 0.041), respectively. Meanwhile, in other disease subgroup, significant increased risks of C allele, CC genotype and GC+CC genotype were found in allele model (C vs G, OR = 1.16, 95% CI 1.04-1.31, p = 0.010), homozygote model (CC vs GG, OR = 1.42, 95% CI 1.10-1.84, p = 0.006) and dominant model (GC+CC vs GG, OR = 1.25, 95% CI 1.04-1.51, p = 0.020), respectively. CONCLUSIONS MiR-146a rs2910164 G>C polymorphism was associated with the susceptibility of ADs.
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Affiliation(s)
- Changzheng Li
- Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China
- School of Traditional Chinese Medicine, Southern Medical University, Guangzhou, Guangdong, China
| | - Weijun Fu
- Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China
| | - Yu Zhang
- Department of Medicine, Virginia Commonwealth University, Richmond, Virginia, United States of America
| | - Liang Zhou
- Department of Medicine, Virginia Commonwealth University, Richmond, Virginia, United States of America
| | - Zhi Mao
- Department of Intensive Care Unit, Chinese PLA General Hospital, Beijing, China
| | - Weiran Lv
- Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China
| | - Juan Li
- Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China
- School of Traditional Chinese Medicine, Southern Medical University, Guangzhou, Guangdong, China
- * E-mail: (YZ); (JL)
| | - Ye Zhou
- School of Biotechnology, Southern Medical University, Guangzhou, Guangdong, China
- * E-mail: (YZ); (JL)
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Sidhu K, Kapoor NR, Pandey V, Kumar V. The "Macro" World of microRNAs in Hepatocellular Carcinoma. Front Oncol 2015; 5:68. [PMID: 25859429 PMCID: PMC4373247 DOI: 10.3389/fonc.2015.00068] [Citation(s) in RCA: 32] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/01/2015] [Accepted: 03/08/2015] [Indexed: 12/23/2022] Open
Abstract
Hepatotropic viruses such as hepatitis B virus (HBV) and hepatitis C virus (HCV) are the major etiological agents associated with development of hepatocellular carcinoma (HCC). Progression of HCC is a multistep process that requires sequential or parallel deregulation of oncogenic and tumor suppressive pathways leading to chromosomal instability and neoplastic phenotype. In the recent years, microRNAs (miRNAs) have carved their own niche alongside oncogenes and tumor suppressors, owing to their innate ability to receive and relay multiple signals. Not surprisingly, miRNAs are fast emerging as central player in myriads of malignancies including HCC. miRNAs are reported to participate in initiation and progression of HCC, and have also been clinically correlated with risk assessment, disease grade, aggressiveness, and prognosis. Despite extensive data available on the role of miRNAs in HCC, there is a pressing need to integrate and evaluate these datasets to find its correlation, if any, with causal agents in order to devise novel interventional modalities. Through this review, we attempt to bridge the gap by consolidating the current knowledge and concepts in the field of HCC-related miRNAs with special emphasis on HBV and HCV. Further, we assess the potential of common as well as unique signatures that may be useful in developing novel biomarkers and therapeutics.
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Affiliation(s)
- Kaveri Sidhu
- Virology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB) , New Delhi , India
| | - Neetu Rohit Kapoor
- Virology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB) , New Delhi , India
| | - Vijaya Pandey
- Virology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB) , New Delhi , India
| | - Vijay Kumar
- Virology Group, International Centre for Genetic Engineering and Biotechnology (ICGEB) , New Delhi , India
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42
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Non-small-cell lung cancer and miRNAs: novel biomarkers and promising tools for treatment. Clin Sci (Lond) 2015; 128:619-34. [PMID: 25760961 DOI: 10.1042/cs20140530] [Citation(s) in RCA: 55] [Impact Index Per Article: 5.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
Abstract
Lung cancer is the leading cause of cancer-related death worldwide, with approximately 80–85% of cases being non-small-cell lung cancer (NSCLC). The miRNAs are small non-coding RNAs that regulate gene expression at a post-transcriptional level by either degradation or inhibition of the translation of target genes. Evidence is mounting that miRNAs exert pivotal effects in the development and progression of human malignancies, including NSCLC. A better understanding of the role that miRNAs play in the disease will contribute to the development of new diagnostic biomarkers and individualized therapeutic tools. In the present review, we briefly describe the role of miRNAs in NSCLC as well as the possible future of these discoveries in clinical applications.
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Shi L, Zhang C, Zhao D, Liu K, Li T, Tian H. Mir-196a-2 C>T polymorphism as a susceptibility factor for colorectal cancer. Int J Clin Exp Med 2015; 8:2600-2606. [PMID: 25932207 PMCID: PMC4402854] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2014] [Accepted: 01/21/2015] [Indexed: 06/04/2023]
Abstract
OBJECTIVE This study aimed to gain a better insight into the impact of the mir-196a-2 C>T polymorphism on the susceptibility to colorectal cancer (CRC). METHODS In a meta-analysis of 6 publications with a total of 1,754 cancer cases and 2,430 controls, we summarized the data on the associations between the studied mir-196a-2 C>T polymorphism and CRC risk and conducted subgroup analyses by ethnicity and control sources. RESULTS We found no overall association between the mir-196a-2 C>T polymorphism and CRC risk. But a significant association was found in the stratified analysis according to ethnicity among Asians (ORCC vs. TT = 1.22, 95% CI = 1.02-1.45, P heterogeneity = 0.718; ORCC vs. TC + TT = 1.22, 95% CI = 1.04-1.44, P heterogeneity = 0.590; ORallele C vs. allele T = 1.10, 95% CI = 1.01-1.20, P heterogeneity = 0.726) rather than Caucasians. CONCLUSIONS Our results suggested that there was no overall risk of CRC in relation to the mir-196a-2 C>T polymorphism. However, this polymorphism was associated with an increased risk in Asian populations.
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Affiliation(s)
- Liang Shi
- The First Department of General Surgery, Cangzhou Central Hospital of Hebei ProvinceXinhua West Road No. 16, Xinhua District, Cangzhou 061001, Hebei Province, China
| | - Chongyang Zhang
- Cangzhou Hospital of Integrated Traditional Chinese Medicine and Western Medicine in HebeiHebei Province, China
| | - Dongqiang Zhao
- The Second Hospital of Hebei Medical UniversityHebei Province, China
| | - Kexia Liu
- The First Department of General Surgery, Cangzhou Central Hospital of Hebei ProvinceXinhua West Road No. 16, Xinhua District, Cangzhou 061001, Hebei Province, China
| | - Tiejun Li
- The First Department of General Surgery, Cangzhou Central Hospital of Hebei ProvinceXinhua West Road No. 16, Xinhua District, Cangzhou 061001, Hebei Province, China
| | - Hui Tian
- The Second Hospital of Hebei Medical UniversityHebei Province, China
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Abstract
Recent studies have suggested that noncoding RNAs (ncRNAs) contribute to the pathogenesis and progression of hepatocellular carcinoma (HCC). These RNA genes may be involved in various pathobiological processes such as cell proliferation, apoptosis, angiogenesis, invasion, and metastasis. Aberrant expression of ncRNA resulting from deregulated epigenetic, transcriptional, or posttranscriptional activity has been described in several studies. ncRNAs are comprised of a highly diverse group of transcripts that include microRNAs (miRNAs) and long noncoding RNAs (lncRNAs) as well as several other types of RNA genes. Understanding the molecular mechanisms by which ncRNA contribute to hepatocarcinogenesis may enable the design of ncRNA-based therapeutics for HCC. In this review, the authors provide a perspective on therapeutic applications based on the emerging evidence of a contributory role of miRNAs and lncRNAs to the pathogenesis and progression of HCC. In addition, ncRNAs that are deregulated in expression in HCC may have utility as potential prognostic or diagnostic markers.
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Affiliation(s)
- Joseph George
- Research Associate, Cancer Biology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224. Tel 904-956-3257
| | - Tushar Patel
- Professor of Medicine, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, 904-953-3257
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45
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Ji HH, Hong-Luo, Huang GL, Yin HX, Xu P, Luo SY, Song JK. Association between microRNA-196a2 rs11614913, microRNA-146a rs2910164, and microRNA-423 rs6505162 polymorphisms and esophageal cancer risk: A meta-analysis. Meta Gene 2015; 3:14-25. [PMID: 26925372 PMCID: PMC4722486 DOI: 10.1016/j.mgene.2014.12.001] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/05/2014] [Revised: 12/09/2014] [Accepted: 12/15/2014] [Indexed: 01/05/2023] Open
Abstract
Many observational studies have found that microRNA-196a2 rs11614913, microRNA-146a rs2910164, and microRNA-423 rs6505162 are associated with esophageal cancer risk. However, the results were mixed and inconsistent among these studies. We conducted a meta-analysis to assess the relationship between the polymorphisms of three microRNAs and esophageal cancer susceptibility. We systematically searched the PubMed and EMBASE databases to screen relevant studies. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to compute the risk of esophageal cancer. Because of the differences in ethnicities, sources of controls, and genotyping methods, the meta-analysis was conducted using a random-effect model regardless of heterogeneity. To further explore potential heterogeneity, we performed subgroup and sensitivity analyses, and publication bias was also evaluated. A total of 6 case-control studies on microRNA-196a2 rs11614913, 4 studies on microRNA-146a rs2910164, and 4 studies on microRNA-423 rs6505162 were considered eligible in the meta-analysis. No statistical association was found between microRNA-196a2 rs11614913, microRNA-146a rs2910164, and microRNA-423 rs6505162 polymorphisms and esophageal cancer susceptibility in any genetic model. Subgroup and sensitivity analyses showed similar results. In summary, based on the currently limited proof, no association exists between microRNA-196a2 rs11614913, microRNA-146a rs2910164, and microRNA-423 rs6505162 polymorphism and esophageal cancer risk. However, the result should be cautiously interpreted because of the heterogeneity among studies. Large, high quality clinical trials are required to verify our findings.
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Affiliation(s)
- Hong-Hai Ji
- The Second People's Hospital in Guiyang, Guiyang 550002, PR China
| | - Hong-Luo
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
| | - Guang-Lei Huang
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
| | - Hai-Xin Yin
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
| | - Ping Xu
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
| | - Si-Yang Luo
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
| | - Ju-Kun Song
- Gui Zhou Provincial People's Hospital, Guiyang 550002, PR China
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Morishita A, Masaki T. miRNA in hepatocellular carcinoma. Hepatol Res 2015; 45:128-41. [PMID: 25040738 DOI: 10.1111/hepr.12386] [Citation(s) in RCA: 81] [Impact Index Per Article: 8.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/27/2014] [Revised: 06/27/2014] [Accepted: 07/01/2014] [Indexed: 12/19/2022]
Abstract
Hepatocellular carcinoma (HCC) is the third leading cause of cancer deaths worldwide. Despite improvements in HCC therapy, the prognosis for HCC patients remains poor due to a high incidence of recurrence. An improved understanding of the pathogenesis of HCC development would facilitate the development of more effective outcomes for the diagnosis and treatment of HCC at earlier stages. miRNA are small, endogenous, non-coding, ssRNA that are 21-30 nucleotides in length and modulate the expression of various target genes at the post-transcriptional and translational levels. Aberrant expression of miRNA is common in various human malignancies and modulates cancer-associated genomic regions or fragile sites. As for the relationship between miRNA and HCC, several studies have demonstrated that the aberrant expression of specific miRNA can be detected in HCC cells and tissues. However, little is known about the mechanisms of miRNA-related cell proliferation and development. In this review, we summarize the central and potential roles of miRNA in the pathogenesis of HCC and elucidate new possibilities that may be useful as diagnostic and prognostic markers, as well as novel therapeutic targets in HCC.
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Affiliation(s)
- Asahiro Morishita
- Department of Gastroenterology and Neurology, Kagawa University School of Medicine, Kagawa, Japan
| | - Tsutomu Masaki
- Department of Gastroenterology and Neurology, Kagawa University School of Medicine, Kagawa, Japan
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Sodhi KK, Bahl C, Singh N, Behera D, Sharma S. Functional genetic variants in pre-miR-146a and 196a2 genes are associated with risk of lung cancer in North Indians. Future Oncol 2015; 11:2159-2173. [PMID: 26235181 DOI: 10.2217/fon.15.143] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.9] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/08/2023] Open
Abstract
OBJECTIVE To find the association of two pre-miRNA polymorphisms with risk of lung cancer in North Indians. MATERIALS & METHODS Genotyping of 250 cases and 255 controls for miR-146a and miR-196a2 using PCR-RFLP. RESULTS Heterozygous subjects showed a risk toward lung cancer (LC), especially for adenocarcinoma (OR: 1.82; 95% CI: 1.04-3.20; p = 0.03) in miR-146a gene. TT genotype for miR-196a2 gene also showed 3.2-fold risk toward LC and the risk was fivefold higher for squamous cell carcinoma. Survival rate was significantly lower in subjects with TT genotype as compared with the CC genotype in miR-196a2. CONCLUSION Both the single nucleotide polymorphism variants showed a positive association toward risk of lung cancer.
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Affiliation(s)
| | - Charu Bahl
- Department of Biotechnology, Thapar University, Patiala, Punjab 147002, India
| | - Navneet Singh
- Department of Pulmonary Medicine, Post Graduate Institute of Education & Medical Research (PGIMER), Sector 14, Chandigarh, India
| | - Digamber Behera
- Department of Pulmonary Medicine, Post Graduate Institute of Education & Medical Research (PGIMER), Sector 14, Chandigarh, India
| | - Siddharth Sharma
- Department of Biotechnology, Thapar University, Patiala, Punjab 147002, India
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Dong Z, Guo S, Yang Y, Wu J, Guan M, Zou H, Jin L, Wang J. Association between ABCG2 Q141K polymorphism and gout risk affected by ethnicity and gender: a systematic review and meta-analysis. Int J Rheum Dis 2014; 18:382-91. [PMID: 25639607 DOI: 10.1111/1756-185x.12519] [Citation(s) in RCA: 24] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/01/2022]
Abstract
AIM Original studies have employed various genetic models in association analysis between ABCG2 Q141K (rs2231142) with gout risk and different or conflicting results, especially regarding the role of gender in this association. In addition, it is not clear whether the association varies by ethnicity. METHOD Articles published before September 1, 2013 were extracted and registered into databases for the systematic review of this polymorphism. The quality of each study was scored based on predefined criteria. The genetic model was identified through stratification analysis, then a meta-analysis including all publically available data was preformed to test the association between rs2231142 and gout risk. Potential sources of heterogeneity were sought out via stratification analysis and meta-regression analysis. RESULTS Nine case-control studies involving 17 942 individuals were eligible for the meta-analysis of rs2231142. Codominant model was the most appropriate genetic model to interpret the susceptibility cause. It showed that the rs2231142 T allele obviously increased gout risk, and TT was much stronger than GT (TT vs. GG: OR, 4.10; 95% CI, 2.90-5.80; GT vs. GG: OR, 1.71, 95% CI, 1.39-2.10). In addition, gender and ethnicity were found to affect the association between the susceptibility of gout and rs2231142. CONCLUSION ABCG2 rs2231142 is an important genetic factor in increasing gout risk, and the difference in genetic association has been found between male and female populations. In addition, the degree of association has been found to vary with ethnicity.
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Affiliation(s)
- Zheng Dong
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
| | - Shicheng Guo
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
| | - Yajun Yang
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
| | - Junjie Wu
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
| | - Ming Guan
- Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China
| | - Hejian Zou
- Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China.,Division of Rheumatology, Huashan Hospital, Fudan University, Shanghai, China
| | - Li Jin
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China
| | - Jiucun Wang
- Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, China.,Institute of Rheumatology, Immunology and Allergy, Fudan University, Shanghai, China
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Pri-miR-34b/c rs4938723 TC heterozygote is associated with increased cancer risks: evidence from published data. Tumour Biol 2014; 35:11967-75. [DOI: 10.1007/s13277-014-2493-9] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/09/2014] [Accepted: 08/13/2014] [Indexed: 12/19/2022] Open
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Qi JH, Wang J, Chen J, Shen F, Huang JT, Sen S, Zhou X, Liu SM. High-resolution melting analysis reveals genetic polymorphisms in microRNAs confer hepatocellular carcinoma risk in Chinese patients. BMC Cancer 2014; 14:643. [PMID: 25176041 PMCID: PMC4161871 DOI: 10.1186/1471-2407-14-643] [Citation(s) in RCA: 31] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/17/2014] [Accepted: 08/26/2014] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Although several single-nucleotide polymorphisms in microRNA (miRNA) genes have been associated with primary hepatocellular carcinoma, published findings regarding this relationship are inconsistent and inconclusive. METHODS The high-resolution melting (HRM) analysis was used to determine whether the occurrence of the SNPs of miR-146a C > G (rs2910164), miR-196a2 C > T (rs11614913), miR-301b A > G (rs384262), and miR-499 C > T (rs3746444) differs in frequency-matched 314 HCC patients and 407 controls by age and sex. RESULTS The groups' genotype distributions of miR-196a2 C > T and miR-499 C > T differed significantly (P < 0.01), both of them increased the risk of HCC in different dominant genetic models (P < 0.01); compared with individuals carrying one or neither of the unfavorable genotypes, individuals carrying both unfavorable genotypes (CT + CC) had a 3.11-fold higher HCC risk (95% confidence interval (CI), 1.89-5.09; P = 7.18 × 10-6). Moreover, the allele frequency of miR-499 C > T was significantly different between the two groups, and the HCC risk of carriers of the C allele was higher than that of carriers of the T allele (odds ratio, 1.53; 95% CI, 1.15-2.03; P = 0.003). Further, we found that the activated partial thromboplastin time (APTT) in HCC patients with miR-196a2 CC genotype was longer than patients with TT genotypes (P < 0.05), and HCC patients with miR-499 C allele had higher serum levels of direct bilirubin, globulin, γ-glutamyltranspeptidase, alkaline phosphatase, and lower serum cholinesterase (P < 0.05). CONCLUSIONS Our findings suggest that the SNPs in miR-196a2 C > T and miR-499 C > T confer HCC risk and that affect the clinical laboratory characteristics of HCC patients.
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Affiliation(s)
- Jia-Hui Qi
- />Center for Gene Diagnosis, Medical Research Center, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, Hubei 430071 China
| | - Jin Wang
- />Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77054 USA
| | - Jinyun Chen
- />Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas USA
| | - Fan Shen
- />Center for Gene Diagnosis, Medical Research Center, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, Hubei 430071 China
| | - Jing-Tao Huang
- />Center for Gene Diagnosis, Medical Research Center, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, Hubei 430071 China
| | - Subrata Sen
- />Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77054 USA
| | - Xin Zhou
- />Center for Gene Diagnosis, Medical Research Center, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, Hubei 430071 China
| | - Song-Mei Liu
- />Center for Gene Diagnosis, Medical Research Center, Zhongnan Hospital of Wuhan University, 169 Donghu Road, Wuhan, Hubei 430071 China
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