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Pobisova A, Kollarova A, Langraf V, Strejcek F, Babosova R. Distribution of human leukocyte antigen B27 (HLA-B27) in Slovak patients. J Appl Biomed 2025; 23:36-44. [PMID: 40145884 DOI: 10.32725/jab.2025.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/01/2024] [Accepted: 03/17/2025] [Indexed: 03/28/2025] Open
Abstract
BACKGROUND AND OBJECTIVES HLA-B27 is a genetic marker associated with spondyloarthropathies, particularly ankylosing spondylitis and axial spondyloarthritis. While its prevalence varies across populations, no data exist for Slovak patients. This study aimed to determine HLA-B27 prevalence in Slovak patients with suspected spondyloarthropathies and assess differences by sex and age. METHODS A retrospective cohort of 1,614 patients (888 females and 726 males) was analyzed for HLA-B27 status (positive/negative) using reverse hybridisation (HLA-B27 StripAssay). Statistical analyses included Pearson's Chi-square test and non-parametric Mann-Whitney U and Kruskal-Wallis tests for sex- and age-related differences. RESULTS HLA-B27 positivity was 20.57%, with a higher proportion in males (23.28%) than females (18.36%, p = 0.0177). The less than 20 age group had the highest absolute number of positive cases (126 cases; 17.80%), while the 21-40 group had the highest relative positivity (119 cases; 29.38%). The lowest positivity was in the more than 61 age group (17 cases; 13.08%), though age distribution differences were not statistically significant (p = 0.7765). Positivity varies across diagnoses, peaking in musculoskeletal (M) and eye disorders (H), where it exceeds 29%. CONCLUSION HLA-B27 positivity is strongly associated with rheumatologic and ophthalmologic conditions and exhibits age- and sex-related variability. These findings emphasize the diagnostic significance of HLA-B27 testing in Slovak patients, especially for early detection and management of spondyloarthropathies. Further research on HLA-B27 variability and its clinical implications is needed to optimize diagnostic strategies and patient care.
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Affiliation(s)
- Alexandra Pobisova
- Faculty Hospital Nitra, Department of Laboratory Medicine, Medical Genetics Laboratory, Nitra, Slovak Republic
| | - Andrea Kollarova
- Faculty Hospital Nitra, Department of Laboratory Medicine, Medical Genetics Laboratory, Nitra, Slovak Republic
| | - Vladimir Langraf
- Constantine the Philosopher University in Nitra, Department of Zoology and Anthropology, Nitra, Slovak Republic
| | - Frantisek Strejcek
- Constantine the Philosopher University in Nitra, Department of Botany and Genetics, Nitra, Slovak Republic
| | - Ramona Babosova
- Constantine the Philosopher University in Nitra, Department of Zoology and Anthropology, Nitra, Slovak Republic
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2
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Fernández-Torres J, Zamudio-Cuevas Y, Ruiz-Dávila X, López-Macay A, Martínez-Flores K. MICA and NLRP3 gene polymorphisms interact synergistically affecting the risk of ankylosing spondylitis. Immunol Res 2024; 72:119-127. [PMID: 37665559 DOI: 10.1007/s12026-023-09419-8] [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: 06/07/2023] [Accepted: 08/28/2023] [Indexed: 09/05/2023]
Abstract
Ankylosing spondylitis (AS) is an autoinflammatory disease that affects the sacroiliac joints, causing stiffness and pain in the back. MICA is a ligand of the NKG2D receptor, and an increase in its expression affects the immune response in various diseases. NLRP3 is a multiprotein complex that promotes the release of IL-1β, but its role in AS has been minimally explored. The objective of this study was to analyze the association and interaction of polymorphic variants of the MICA and NLRP3 genes in patients with AS. In this case-control study, patients with AS were included and compared with healthy controls of Mexican origin. The polymorphisms rs4349859 and rs116488202 of MICA and rs3806268 and rs10754558 of NLRP3 were genotyped using TaqMan probes. Associations were determined using logistic regression models, while interactions were analyzed by the multifactorial dimensionality reduction (MDR) method. A P value < 0.05 was considered statistically significant. The minor allele of rs4349859 (A) and rs116488202 (T) of MICA polymorphisms showed risk associations with AS (OR = 9.22, 95% CI = 4.26-20.0, P < 0.001; OR = 9.36, 95% CI = 4.17-21.0, P < 0.001), while the minor allele of the rs3806268 (A) polymorphism of NLRP3 was associated with protection (OR = 0.55, 95% CI = 0.33-0.91, P = 0.019). MDR analysis revealed synergistic interactions between the MICA and NLRP3 polymorphisms (P = 0.012). In addition, high- and low-risk genotypes were identified among these variants. The study findings suggest that the MICA rs4349859 A allele and rs116488202 T allele are associated with AS risk. An interaction between MICA and NLRP3 was observed which could increase the genetic risk in AS.
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Affiliation(s)
- Javier Fernández-Torres
- Laboratorio de Líquido Sinovial, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Calzada México-Xochimilco 289, C.P. 14389, Alcaldía Tlalpan, Mexico City, Mexico.
- Biology Department, Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico.
| | - Yessica Zamudio-Cuevas
- Laboratorio de Líquido Sinovial, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Calzada México-Xochimilco 289, C.P. 14389, Alcaldía Tlalpan, Mexico City, Mexico
| | | | - Ambar López-Macay
- Laboratorio de Líquido Sinovial, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Calzada México-Xochimilco 289, C.P. 14389, Alcaldía Tlalpan, Mexico City, Mexico
| | - Karina Martínez-Flores
- Laboratorio de Líquido Sinovial, Instituto Nacional de Rehabilitación Luis Guillermo Ibarra Ibarra, Calzada México-Xochimilco 289, C.P. 14389, Alcaldía Tlalpan, Mexico City, Mexico
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Werkl P, Rademacher J, Pleyer U. HLA-B27-positive anterior uveitis : Clinical aspects, diagnostics, interdisciplinary management, and treatment. DIE OPHTHALMOLOGIE 2024; 121:12-22. [PMID: 38085287 DOI: 10.1007/s00347-023-01960-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 11/08/2023] [Indexed: 02/03/2024]
Abstract
Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be a separate clinical entity. Young adults between the ages of 20 and 40 years are predominantly affected. The HLA-B27 positive AAU typically presents as a unilateral, fulminant disruption of the blood-aqueous humor barrier, which is accompanied by pronounced cellular infiltration and fibrinous exudation. Other characteristics are reduced intraocular pressure and a high tendency to relapse, which can also involve the partner eye. Patients with HLA-B27 positive AAU share a high risk for other genetically associated diseases, especially spondylarthritis, chronic inflammatory bowel diseases and psoriasis. As up to 40% of those affected have a systemic disease that has not yet been diagnosed, the ophthalmologist is of major importance for early detection.
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Affiliation(s)
- Peter Werkl
- Universitätsaugenklinik Graz-LKH-Universitätsklinikum Graz, Medizinische Universität Graz, Auenbruggerplatz 4, 8036, Graz, Austria
| | - Judith Rademacher
- Medizinische Klinik für Gastroenterologie, Infektiologie und Rheumatologie, Division of Gastroenterology, Infectious Diseases and Rheumatology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Hindenburgdamm 30, 12203, Berlin, Germany
- Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany
| | - Uwe Pleyer
- Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
- Universitäts-Augenklinik, Charité, Campus Virchow Klinikum-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, und Berlin Institute of Health, 13355, Berlin, Germany.
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4
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Nakao Y, Sakuraba K, Harimaya K, Terada K, Kobara N, Kawaguchi KI, Hayashida M, Iida K, Nakashima Y, Fukushi JI. Clinical features and outcomes of spine surgery in patients with ankylosing spondylitis. Mod Rheumatol 2023; 34:208-213. [PMID: 36469006 DOI: 10.1093/mr/roac142] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/24/2022] [Revised: 08/10/2022] [Accepted: 12/01/2022] [Indexed: 12/24/2023]
Abstract
OBJECTIVES The study aimed to comprehend the clinical features and outcomes of surgical treatments for spinal disorders in patients with ankylosing spondylitis (AS). METHODS This retrospective study enrolled patients with AS who underwent spine surgery between 2000 and 2019 in our facility. RESULTS Thirteen patients with AS underwent spine surgeries. The mean age was 56.2 years, and the mean disease duration was 25.1 years at the time of surgery. Nine patients had vertebral fracture, two had kyphotic deformity, and two had myelopathy due to the spinal ligament ossification. Fracture cases included five patients with secondary pseudarthrosis/delayed palsy due to conservative treatment failure. Spinal fixation was performed in all patients. Pedicle subtraction osteotomy for kyphosis and laminectomy for myelopathy were also conducted. All patients improved after surgeries. One patient with kyphotic deformity underwent additional surgery of bilateral hip prosthesis, which resulted in better spine alignment. Four cases of perioperative complications were observed. CONCLUSION Myelopathy was newly found as the aetiology requiring surgery in patients with AS. This summarized case series could help physicians to identify patients with surgically treatable spinal disorders among patients with AS.
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Affiliation(s)
- Yuki Nakao
- Department of Orthopaedic Surgery, Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan
| | - Koji Sakuraba
- Department of Orthopaedic Surgery, Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan
| | - Katsumi Harimaya
- Department of Orthopaedic Surgery, Kyushu University Beppu Hospital, Oita, Japan
| | - Kazuo Terada
- Department of Orthopaedic Surgery, Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan
| | - Nobuo Kobara
- Department of Orthopaedic Surgery, Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan
| | - Ken-Ichi Kawaguchi
- Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Mitsumasa Hayashida
- Department of Orthopaedic Surgery, Saga-ken Medical Centre Koseikan, Saga, Japan
| | - Keiichiro Iida
- Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Yasuharu Nakashima
- Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
| | - Jun-Ichi Fukushi
- Department of Orthopaedic Surgery, Clinical Research Center, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan
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Rapata M, Cunningham W, Harwood M, Niederer R. Te hauora karu o te iwi Māori: A comprehensive review of Māori eye health in Aotearoa/New Zealand. Clin Exp Ophthalmol 2023; 51:714-727. [PMID: 37560825 DOI: 10.1111/ceo.14279] [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: 04/13/2023] [Revised: 06/11/2023] [Accepted: 06/23/2023] [Indexed: 08/11/2023]
Abstract
This article provides a summary of available data on Māori ocular health, highlighting significant disparities between Māori and non-Māori populations. Māori are more likely to develop diabetes, sight-threatening retinopathy and keratoconus, and present for cataract surgery earlier with more advanced disease. Limited data exists for macular degeneration and glaucoma, but there is some suggestion that Māori may have lower prevalence rates. The article emphasises the urgent need for robust national data on Māori ocular health to enable targeted interventions and funding allocation. Achieving equity for Māori in all aspects of health, including ocular health, requires concerted efforts from all stakeholders.
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Affiliation(s)
- Micah Rapata
- Te Whatu Ora Auckland/Health New Zealand Auckland, Auckland, New Zealand
| | - Will Cunningham
- Te Whatu Ora Auckland/Health New Zealand Auckland, Auckland, New Zealand
| | - Matire Harwood
- Department of Ophthalmology, University of Auckland, Auckland, New Zealand
| | - Rachael Niederer
- Te Whatu Ora Auckland/Health New Zealand Auckland, Auckland, New Zealand
- Department of Ophthalmology, University of Auckland, Auckland, New Zealand
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6
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Werkl P, Rademacher J, Pleyer U. [HLA-B27 positive anterior uveitis : Clinical aspects, diagnostics, interdisciplinary management and treatment]. DIE OPHTHALMOLOGIE 2023; 120:108-122. [PMID: 36633629 DOI: 10.1007/s00347-022-01793-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 12/08/2022] [Indexed: 01/13/2023]
Abstract
Acute anterior uveitis (AAU) associated with human leukocyte antigen (HLA) B27 is the most common form of noninfectious intraocular inflammation and is considered to be a separate clinical entity. Young adults between the ages of 20 and 40 years are predominantly affected. The HLA-B27 positive AAU typically presents as a unilateral, fulminant disruption of the blood-aqueous humor barrier, which is accompanied by pronounced cellular infiltration and fibrinous exudation. Other characteristics are reduced intraocular pressure and a high tendency to relapse, which can also involve the partner eye. Patients with HLA-B27 positive AAU share a high risk for other genetically associated diseases, especially spondylarthritis, chronic inflammatory bowel diseases and psoriasis. As up to 40% of those affected have a systemic disease that has not yet been diagnosed, the ophthalmologist is of major importance for early detection.
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Affiliation(s)
- Peter Werkl
- Universitätsaugenklinik Graz - LKH-Universitätsklinikum Graz, Medizinische Universität Graz, Auenbruggerplatz 4, 8036, Graz, Österreich
| | - Judith Rademacher
- Medizinische Klinik für Gastroenterologie, Infektiologie und Rheumatologie, Division of Gastroenterology, Infectious Diseases and Rheumatology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Hindenburgdamm 30, 12203, Berlin, Deutschland.,Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland
| | - Uwe Pleyer
- Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Deutschland. .,Universitäts-Augenklinik, Charité, Campus Virchow Klinikum - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, und Berlin Institute of Health, Berlin, Deutschland.
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7
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Toohey TP, Wallace S, Toohey MG, Francis IC. Papillitis and uveitis complicating Bacillus Calmette-Guérin immunotherapy. BMJ Case Rep 2022; 15:e247578. [PMID: 35606040 PMCID: PMC9174766 DOI: 10.1136/bcr-2021-247578] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 05/08/2022] [Indexed: 11/03/2022] Open
Abstract
Intravesical Bacillus Calmette-Guérin (BCG) administration was used to treat bladder carcinoma in a woman in her 60s. Severe bilateral non-granulomatous anterior uveitis and gross papillitis developed subsequently. The severe BCG-induced bilateral uveitis and papillitis were treated with high dose oral corticosteroids, with topical steroids and cycloplegics. Resolution of her ocular symptoms and signs eventuated. On lumbar puncture, no evidence of systemic spread of the BCG was found. Visual acuity returned to 6/9 in each eye with subsequent resolution of papillitis. Repeat cystoscopy demonstrated no evidence of recurrent bladder tumour.Hypersensitivity reactions are well recognised with Tubercle bacilli While both hypersensitivity reactions and dissemination of BCG throughout the body have been previously documented, the literature demonstrates that this case is the first example in which papillitis and bilateral uveitis were the prominent ophthalmological features.
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Affiliation(s)
- Thomas P Toohey
- Department of Ophthalmology, Prince of Wales Hospital and Community Health Services, Randwick, New South Wales, Australia
| | - Sharon Wallace
- Dorevitch Pathology, Ballarat Health Services, Ballarat Central, Victoria, Australia
| | - Michael G Toohey
- Department of Surgery, Ballarat Base Hospital, Ballarat Central, Victoria, Australia
| | - Ian C Francis
- Department of Medicine, University of New South Wales, Sydney, New South Wales, Australia
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Martínez-Nava GA, Zamudio-Cuevas Y, Terrazas-Ontiveros NA, Martínez-Flores K, Espinosa-Morales R, Mijares-Díaz F, Juárez-Barreto SM, Lozada-Pérez C, Valdés-Flores M, Sánchez-Sánchez R, Hidalgo-Bravo A, Fernández-Torres J. A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study. Mol Biol Rep 2021; 48:7819-7829. [PMID: 34643924 DOI: 10.1007/s11033-021-06801-3] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/26/2021] [Accepted: 10/01/2021] [Indexed: 12/19/2022]
Abstract
BACKGROUND Ankylosing spondylitis (AS) is a type of inflammatory arthritis that affects primarily the spine. There is a strong association of the HLA-B*27 allele with AS pathogenesis, but recent studies have demonstrated the participation of ERAP1 gene in the genetic susceptibility. The aim of this study was to determine whether HLA-B tag-single nucleotide polymorphisms (SNPs) and ERAP1-related genetic variations associated with AS have equal or similarly performance in patients´ screening compared to HLA-B*27 standard genotyping in Mexican population. METHODS AND RESULTS Genomic DNA from patients with AS and population-based controls from Mexico City was analyzed for five single nucleotide polymorphisms (SNPs): rs4349859, rs13202464, rs116488202, tagging HLA-B*27; and rs30187 and rs27044 in ERAP1 gene. TaqMan genotype assay method was used for SNPs genotyping. We found a significant association between AS and the heterozygote genotypes and minor alleles of the HLA-B*27 tag-SNPs, as well as for their haplotypes. With respect to ERAP1 polymorphisms, no significant associations were observed (p > 0.05). The sensitivity and specificity analysis showed values of 0.96 and 1.00 for the rs4349859 SNP, and 0.96 and 0.94 for the rs116488202 SNP, respectively, in detecting HLA-B*27 compared to the B27 test as the gold standard. CONCLUSIONS HLA-B*27 tag-SNPs are associated with AS susceptibility; furthermore, the rs4349859 SNP by its own have an outstanding performance in detecting HLA-B*27 and therefore can be proposed as screening marker in the identification of HLA-B*27 in our population.
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Affiliation(s)
| | - Yessica Zamudio-Cuevas
- Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | | | - Karina Martínez-Flores
- Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Rolando Espinosa-Morales
- Rheumatology Department, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Fernando Mijares-Díaz
- Facultad de Medicina, Universidad Autónoma de Guadalajara, Guadalajara, Jalisco, Mexico
| | | | - Carlos Lozada-Pérez
- Rheumatology Department, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Margarita Valdés-Flores
- Genetics Service, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Roberto Sánchez-Sánchez
- Unidad de Ingeniería de Tejidos, Terapia Celular y Medicina Regenerativa, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Alberto Hidalgo-Bravo
- Genetics Service, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico
| | - Javier Fernández-Torres
- Synovial Fluid Laboratory, Instituto Nacional de Rehabilitación "Luis Guillermo Ibarra Ibarra", Mexico City, Mexico. .,Biology Department, Facultad de Química, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico.
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Nationwide Study of Drug Resistance Mutations in HIV-1 Infected Individuals under Antiretroviral Therapy in Brazil. Int J Mol Sci 2021; 22:ijms22105304. [PMID: 34069929 PMCID: PMC8157590 DOI: 10.3390/ijms22105304] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/22/2021] [Revised: 05/11/2021] [Accepted: 05/13/2021] [Indexed: 12/02/2022] Open
Abstract
The success of antiretroviral treatment (ART) is threatened by the emergence of drug resistance mutations (DRM). Since Brazil presents the largest number of people living with HIV (PLWH) in South America we aimed at understanding the dynamics of DRM in this country. We analyzed a total of 20,226 HIV-1 sequences collected from PLWH undergoing ART between 2008–2017. Results show a mild decline of DRM over the years but an increase of the K65R reverse transcriptase mutation from 2.23% to 12.11%. This increase gradually occurred following alterations in the ART regimens replacing zidovudine (AZT) with tenofovir (TDF). PLWH harboring the K65R had significantly higher viral loads than those without this mutation (p < 0.001). Among the two most prevalent HIV-1 subtypes (B and C) there was a significant (p < 0.001) association of K65R with subtype C (11.26%) when compared with subtype B (9.27%). Nonetheless, evidence for K65R transmission in Brazil was found both for C and B subtypes. Additionally, artificial neural network-based immunoinformatic predictions suggest that K65R could enhance viral recognition by HLA-B27 that has relatively low prevalence in the Brazilian population. Overall, the results suggest that tenofovir-based regimens need to be carefully monitored particularly in settings with subtype C and specific HLA profiles.
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Rivas L, Strydom H, Paine S, Wang J, Wright J. Yersiniosis in New Zealand. Pathogens 2021; 10:191. [PMID: 33578727 PMCID: PMC7916520 DOI: 10.3390/pathogens10020191] [Citation(s) in RCA: 19] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/21/2020] [Revised: 01/21/2021] [Accepted: 01/27/2021] [Indexed: 11/19/2022] Open
Abstract
The rate of yersiniosis in New Zealand (NZ) is high compared with other developed countries, and rates have been increasing over recent years. Typically, >99% of human cases in NZ are attributed to Yersinia enterocolitica (YE), although in 2014, a large outbreak of 220 cases was caused by Yersinia pseudotuberculosis. Up until 2012, the most common NZ strain was YE biotype 4. The emergent strain since this time is YE biotype 2/3 serotype O:9. The pathogenic potential of some YE biotypes remains unclear. Most human cases of yersiniosis are considered sporadic without an identifiable source. Key restrictions in previous investigations included insufficient sensitivity for the isolation of Yersinia spp. from foods, although foodborne transmission is the most likely route of infection. In NZ, YE has been isolated from a variety of sick and healthy domestic and farm animals but the pathways from zoonotic reservoir to human remain unproven. Whole-genome sequencing provides unprecedented discriminatory power for typing Yersinia and is now being applied to NZ epidemiological investigations. A "One-Health" approach is necessary to elucidate the routes of transmission of Yersinia and consequently inform targeted interventions for the prevention and management of yersiniosis in NZ.
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Affiliation(s)
- Lucia Rivas
- Christchurch Science Centre, Institute of Environmental Science and Research Limited, Ilam, Christchurch 8041, New Zealand;
| | - Hugo Strydom
- National Centre for Biosecurity and Infectious Disease, Institute of Environmental Science and Research Limited, Upper Hutt, Wellington 5018, New Zealand;
| | - Shevaun Paine
- Kenepuru Science Centre, Institute of Environmental Science and Research Limited, Porirua, Wellington 5022, New Zealand; (S.P.); (J.W.)
| | - Jing Wang
- Kenepuru Science Centre, Institute of Environmental Science and Research Limited, Porirua, Wellington 5022, New Zealand; (S.P.); (J.W.)
| | - Jackie Wright
- National Centre for Biosecurity and Infectious Disease, Institute of Environmental Science and Research Limited, Upper Hutt, Wellington 5018, New Zealand;
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11
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Morin M, Hellgren K, Frisell T. Familial aggregation and heritability of ankylosing spondylitis - a Swedish nested case-control study. Rheumatology (Oxford) 2020; 59:1695-1702. [PMID: 31687771 PMCID: PMC7310084 DOI: 10.1093/rheumatology/kez519] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/10/2019] [Revised: 09/30/2019] [Indexed: 01/20/2023] Open
Abstract
OBJECTIVES AS is known to be a highly heritable disease, but previous studies on the magnitude of the familial aggregation and heritability of AS have been small and inconclusive, with familial relative risks ranging from 17 to 94. We aimed to improve estimates of these factors by studying families of all subjects diagnosed with AS in Sweden over a period of 16 years and to investigate if familial risks vary by sex or type of relative. METHODS In a nested case-control study, we identified AS index patients from the National Patient Register (NPR) and the Swedish Rheumatology Quality Register (SRQ) between 2001 and 2016. Each index patient was matched on age and sex to up to 50 general population controls. First-degree relatives of index patients and controls were identified through the Multi-Generation Register, with disease status ascertained in the NPR and SRQ. Familial risks were defined as odds ratios (ORs) of having AS when exposed to a first-degree relative with AS, using conditional logistic regression. RESULTS The overall familial OR for AS was 19.4 (95% CI 18.1, 20.8). Estimates were similar for different relative types and by sex, but having more than one affected relative resulted in a higher risk [OR 68.0 (95% CI 51.3, 90.1)]. Heritability, estimated by assuming sibling risks were completely due to genetics, was 77% (95% CI 73, 80). CONCLUSION Although the familial risk and heritability of AS are higher than for most other diseases, we report estimates that are substantially lower than commonly referenced numbers for AS from other populations.
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Affiliation(s)
- Matilda Morin
- Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
| | - Karin Hellgren
- Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.,Rheumatology Division, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
| | - Thomas Frisell
- Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden
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12
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Hossain RR, Al-Ani HH, Sims JL, Lindsay K, Niederer RL. Rates of spondyloarthropathies vary with age and ethnicity in HLAB27 uveitis. Br J Ophthalmol 2020; 105:1395-1398. [PMID: 32863277 DOI: 10.1136/bjophthalmol-2020-316150] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/12/2020] [Revised: 07/13/2020] [Accepted: 08/07/2020] [Indexed: 01/20/2023]
Abstract
BACKGROUND/AIMS To determine associations between HLAB27-positive uveitis, ethnicity and seronegative spondyloarthropathies (SpAs) in a New Zealand population. METHODS Retrospective observational cohort study. Medical records of all subjects with uveitis at Auckland District Health Board from 2008 to 2018 were reviewed for HLAB27 status, age of presentation, ethnicity and SpA. RESULTS In 10 years, 2567 subjects with uveitis were seen and 492 (19.2%) were HLAB27-positive. Of the HLAB27-positive subjects, 301 were male (60.3%) and median age was 37.8 years (IQR 29.7-50.0). Ethnicities were Caucasian (n=298, 60.6%), Asian (n=111, 22.6%), Maori (n=41, 8.2%) and Pacific Islander (n=38, 7.7%). Uveitis classification was anterior (n=478, 97.2%), intermediate (n=40, 8.1%), panuveitis (n=9, 1.8%) and scleritis (n=2, 0.4%). Maori or Pacific Islander ethnicity was associated with intermediate or panuveitis (p=0.003). Ankylosing spondylitis occurred in 163 subjects (33.1%); 29 (17.8%) were Maori or Pacific Islander. Subjects were younger (OR 0.982, p=0.009) and male (OR 1.980, p=0.001). There was no association with ethnicity or uveitis classification. Psoriatic arthritis (PsA) occurred in 11 subjects (2.2%). Chronic anterior uveitis was more common with PsA (27.3% vs 7.1%, p=0.023). There was no association with gender or ethnicity. Inflammatory bowel disease occurred in 19 subjects (3.8%) and reactive arthritis occurred in 14 subjects (2.8%). None developed chronic anterior uveitis (p=0.246 and p=0.227, respectively). There was no association with age at presentation, gender, ethnicity or uveitis classification. CONCLUSION This cohort of New Zealand-based subjects with HLAB27-positive uveitis showed a difference in age and ethnicity in uveitis subtypes and SpAs.
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Affiliation(s)
- Ruhella R Hossain
- Department of Ophthalmology, The University of Auckland, Auckland, New Zealand.,Department of Ophthalmology, Greenlane Clinical Centre, Auckland, New Zealand
| | - Haya H Al-Ani
- Department of Ophthalmology, The University of Auckland, Auckland, New Zealand.,Department of Ophthalmology, Greenlane Clinical Centre, Auckland, New Zealand
| | - Joanne L Sims
- Department of Ophthalmology, Greenlane Clinical Centre, Auckland, New Zealand
| | - Karen Lindsay
- Department of Rheumatology, Greenlane Clinical Centre, Auckland, New Zealand
| | - Rachael L Niederer
- Department of Ophthalmology, The University of Auckland, Auckland, New Zealand .,Department of Ophthalmology, Greenlane Clinical Centre, Auckland, New Zealand
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13
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Jang HS, Proos A, Koe L, Anderson J, Fulton R, Fernando SL. High accuracy of HLA-B*27 genotyping by allele-specific real-time polymerase chain reaction in a heterogeneous population compared to flow cytometry and single nucleotide polymorphism detection assays. Pathology 2020; 52:256-261. [PMID: 31902620 DOI: 10.1016/j.pathol.2019.09.013] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2018] [Revised: 08/29/2019] [Accepted: 09/15/2019] [Indexed: 12/17/2022]
Abstract
HLA-B27 is a risk marker for ankylosing spondylitis and other associated seronegative spondyloarthropathies. We compared three methods of HLA-B*27 typing in a New South Wales (NSW) population: flow cytometry, rs4349859 single nucleotide polymorphism (SNP) detection assay, and allele-specific real-time polymerase chain reaction (RT-PCR) analysis of exons 2 and 3. Over a 5-month period, 543 samples underwent flow cytometric testing and RT-PCR high-resolution melt analysis of rs4349859 SNP and of exon 2 (5' fragment) and exon 3. In the third method, positive samples were further analysed with fluorescent resonance emission transfer (FRET) RT-PCR of exon 2 fragments, 2a and 2b. HLA-B*27 and other genotypes were confirmed by Sanger sequencing of a 600 base pair fragment of exons 2 and 3. In our cohort, the rs4349859 SNP method had 78.6% sensitivity and 98.7% specificity. Screening with exon 2 (5' fragment) and exon 3 RT-PCR provided 100% sensitivity. Further testing with exon 2a and 2b FRET RT-PCR produced 100% specificity. This cascade approach with allele-specific RT-PCR assays was able to differentiate all samples into HLA-B*27 subtypes. HLA-B*27 genotyping with allele-specific RT-PCR assays, to screen for and confirm HLA-B27 positive samples, was more sensitive and specific than flow cytometry and rs4349859 SNP assays. It is a potentially cost-effective method for differentiating HLA-B27 subtypes. Our cascade genetic testing approach is suitable for replacing the current flow cytometric HLA-B27 assay for the heterogeneous NSW population.
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Affiliation(s)
- Helena S Jang
- Immunorheumatology Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia; Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, NSW, Australia.
| | - Annè Proos
- Molecular Genetics Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia
| | - Lisa Koe
- Molecular Genetics Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia
| | - Janet Anderson
- Immunorheumatology Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia
| | - Richard Fulton
- Immunorheumatology Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia
| | - Suran L Fernando
- Immunorheumatology Laboratory, New South Wales Health Pathology, Royal North Shore Hospital, Sydney, NSW, Australia; Department of Clinical Immunology and Allergy, Royal North Shore Hospital, Sydney, NSW, Australia; The University of Sydney, Sydney, NSW, Australia
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14
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Ton KNT, Cree SL, Gronert-Sum SJ, Merriman TR, Stamp LK, Kennedy MA. Multiplexed Nanopore Sequencing of HLA-B Locus in Māori and Pacific Island Samples. Front Genet 2018; 9:152. [PMID: 29760718 PMCID: PMC5936980 DOI: 10.3389/fgene.2018.00152] [Citation(s) in RCA: 15] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/21/2017] [Accepted: 04/12/2018] [Indexed: 11/13/2022] Open
Abstract
The human leukocyte antigen (HLA) system encodes the human major histocompatibility complex (MHC). HLA-B is the most polymorphic gene in the MHC class I region and many HLA-B alleles have been associated with adverse drug reactions (ADRs) and disease susceptibility. The frequency of such HLA-B alleles varies by ethnicity, and therefore it is important to understand the prevalence of such alleles in different population groups. Research into HLA involvement in ADRs would be facilitated by improved methods for genotyping key HLA-B alleles. Here, we describe an approach to HLA-B typing using next generation sequencing (NGS) on the MinION™ nanopore sequencer, combined with data analysis with the SeqNext-HLA software package. The nanopore sequencer offers the advantages of long-read capability and single molecule reads, which can facilitate effective haplotyping. We developed this method using reference samples as well as individuals of New Zealand Māori or Pacific Island descent, because HLA-B diversity in these populations is not well understood. We demonstrate here that nanopore sequencing of barcoded, pooled, 943 bp polymerase chain reaction (PCR) amplicons of 49 DNA samples generated ample read depth for all samples. HLA-B alleles were assigned to all samples at high-resolution with very little ambiguity. Our method is a scaleable and efficient approach for genotyping HLA-B and potentially any other HLA locus. Finally, we report our findings on HLA-B genotypes of this cohort, which adds to our understanding of HLA-B allele frequencies among Māori and Pacific Island people.
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Affiliation(s)
- Kim N T Ton
- Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand
| | - Simone L Cree
- Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand
| | | | - Tony R Merriman
- Biochemistry Department, University of Otago, Dunedin, New Zealand
| | - Lisa K Stamp
- Department of Medicine, University of Otago, Christchurch, New Zealand
| | - Martin A Kennedy
- Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand
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15
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Chheda P, Warghade S, Mathias J, Dama T, Matkar S, Shah N, Bendre R. HLA-B27 testing: A journey from flow cytometry to molecular subtyping. J Clin Lab Anal 2018; 32:e22382. [PMID: 29349813 DOI: 10.1002/jcla.22382] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2017] [Accepted: 12/12/2017] [Indexed: 12/17/2022] Open
Abstract
BACKGROUND Determination of HLA-B27 status plays an important role as adjuvant in suspected cases for diagnosis of Ankylosing Spondilytis (AS). Objectives of this study were to evaluate (i) flow cytometry method in comparison with DNA microarray for HLA-B27 typing and (ii) EUROArray HLA-B27 Direct assay for HLA-B27 allele detection along with discrimination of AS/non-AS subtypes in Indian population. METHODS A total of 7543 patients with a presumptive clinical diagnosis of AS were referred for screening of HLA-B27. All samples were initially tested by flow cytometry, and based on its findings, 1560 samples were analyzed for the presence of HLA-B27 allele by microarray technology. A subset of samples (n = 200) were further tested by DNA sequencing for identification of HLA-B27 subtypes. RESULTS Screening of HLA-B27 by flow cytometry reported 1551 positive (20.56%) and 5556 negative (73.65%) cases. Remaining 436 (5.78%) samples were identified within equivocal zone. Of cases (n = 1560) analyzed by microarray method, 1333 (85.44%) and 227 (14.55%) were detected microarray positive and negative, respectively. DNA sequencing identified HLA-B*27:07 as the predominant subtype among cases showing ex2 positivity by microarray method. Of 200 cases, 20 cases (14 of HLA-B*07 and 6 of HLA-B*37) of HLA-B27 cross-reactive subtypes were also identified. CONCLUSION We recommend DNA typing as a complementary tool along with flow cytometry to accomplish successful HLA-B27 phenotype determination. This is the first study among Indian population to evaluate efficacy of EUROArray to detect B27 allele and its potential to indicate the presence of nondisease-associated alleles in Indian population.
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Affiliation(s)
- Pratiksha Chheda
- Department of Molecular Pathology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Sandeep Warghade
- Department of Hematology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Jyothi Mathias
- Department of Hematology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Tavisha Dama
- Department of Molecular Pathology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Sunmeet Matkar
- Medical Communications, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Nilesh Shah
- Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
| | - Rajesh Bendre
- Department of Hematology, Metropolis Healthcare Ltd, Mumbai, Maharashtra, India
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LEHR JOSH, RAHMAN PROTON, O’RIELLY DARREND. High Accuracy and Significant Savings Using Tag-SNP Genotyping to DetermineHLA-B*27Status. J Rheumatol 2017; 44:962-963. [DOI: 10.3899/jrheum.161095] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/09/2023]
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Truong SL, Saad NF, Robinson PC, Cowderoy G, Lim I, Schachna L, Stebbings S, Stuckey S, Taylor AL, Whittle SL, Zochling J, Bird P, Brown MA. Consensus statements on the imaging of axial spondyloarthritis in Australia and New Zealand. J Med Imaging Radiat Oncol 2016; 61:58-69. [DOI: 10.1111/1754-9485.12573] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/19/2016] [Accepted: 11/05/2016] [Indexed: 11/28/2022]
Affiliation(s)
- Steven L Truong
- Department of Rheumatology; Auckland District Healthcare Board; Auckland New Zealand
- Translational Research Institute; Princess Alexandra Hospital; University of Queensland Diamantina Institute; Brisbane Queensland Australia
| | - Nivene F Saad
- Department of Radiology; Princess Alexandra Hospital; Woolloongabba Queensland Australia
- School of Medicine; University of Queensland; Herston Queensland Australia
| | - Philip C Robinson
- School of Medicine; University of Queensland; Herston Queensland Australia
| | - Greg Cowderoy
- Brisbane Private Imaging; Royal Brisbane and Womens’ Hospitals; Herston Queensland Australia
| | - Irwin Lim
- BJC Health; Sydney New South Wales Australia
| | | | - Simon Stebbings
- Department of Medicine; Dunedin School of Medicine; University of Otago; Dunedin New Zealand
- Department of Rheumatology; Dunedin Hospital; Dunedin New Zealand
| | - Stephen Stuckey
- Monash Imaging; Monash Health Departments of Medicine and Imaging; School of Clinical Studies at Monash Health; Monash University; Melbourne Victoria Australia
| | - Andrew L Taylor
- University of Western Australia; Perth Western Australia Australia
- Royal Perth Hospital; Perth Western Australia Australia
| | - Samuel L Whittle
- Rheumatology Unit; The Queen Elizabeth Hospital; Woodville South South Australia Australia
- The University of Adelaide; Adelaide South Australia Australia
| | - Jane Zochling
- Menzies Institute for Medical Research; University of Tasmania; Hobart Tasmania Australia
| | - Paul Bird
- University of New South Wales; Sydney New South Wales Australia
| | - Matthew A Brown
- Institute of Health and Biomedical Innovation; Translational Research Institute; Princess Alexandra Hospital; Queensland University of Technology; Brisbane Queensland Australia
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18
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Wong A, McKelvie J, Slight C, Sims J. Land of the Long White Cloud: The Spectrum of Uveitis at a Tertiary Referral Center in New Zealand. Ocul Immunol Inflamm 2016; 25:S115-S121. [DOI: 10.1080/09273948.2016.1203957] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/21/2022]
Affiliation(s)
- Aaron Wong
- Department of Ophthalmology, Auckland DHB, Auckland, New Zealand
| | - James McKelvie
- Department of Ophthalmology, Auckland DHB, Auckland, New Zealand
| | - Carol Slight
- Department of Ophthalmology, Auckland DHB, Auckland, New Zealand
| | - Joanne Sims
- Department of Ophthalmology, Auckland DHB, Auckland, New Zealand
- Auckland Eye, Auckland, New Zealand
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19
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Bisanz JE, Suppiah P, Thomson WM, Milne T, Yeoh N, Nolan A, Ettinger G, Reid G, Gloor GB, Burton JP, Cullinan MP, Stebbings SM. The oral microbiome of patients with axial spondyloarthritis compared to healthy individuals. PeerJ 2016; 4:e2095. [PMID: 27330858 PMCID: PMC4906644 DOI: 10.7717/peerj.2095] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/25/2016] [Accepted: 05/09/2016] [Indexed: 12/20/2022] Open
Abstract
Background. A loss of mucosal tolerance to the resident microbiome has been postulated in the aetiopathogenesis of spondyloarthritis, thus the purpose of these studies was to investigate microbial communities that colonise the oral cavity of patients with axial spondyloarthritis (AxSpA) and to compare these with microbial profiles of a matched healthy population. Methods. Thirty-nine participants, 17 patients with AxSpA and 22 age and gender-matched disease-free controls were recruited to the study. For patients with AxSpA, disease activity was assessed using the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). All participants underwent a detailed dental examination to assess oral health, including the presence of periodontal disease assessed using probing pocket depth (PPD). Plaque samples were obtained and their bacterial populations were profiled using Ion Torrent sequencing of the V6 region of the 16S rRNA gene. Results.Patients with AxSpA had active disease (BASDAI 4.1 ± 2.1 [mean ± SD]), and a significantly greater prevalence of periodontitis (PPD ≥ 4 mm at ≥4 sites) than controls. Bacterial communities did not differ between the two groups with multiple metrics of α and β diversity considered. Analysis of operational taxonomic units (OTUs) and higher levels of taxonomic assignment did not provide strong evidence of any single taxa associated with AxSpA in the subgingival plaque. Discussion. Although 16S rRNA gene sequencing did not identify specific bacterial profiles associated with AxSpA, there remains the potential for the microbiota to exert functional and metabolic influences in the oral cavity which could be involved in the pathogenesis of AxSpA.
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Affiliation(s)
- Jordan E Bisanz
- Department of Microbiology and Immunology, Western University, London, Ontario, Canada; Canadian Centre for Human Microbiome and Probiotic Research, Lawson Health Research Institute, London, Ontario, Canada
| | - Praema Suppiah
- School of Dentistry, University of Otago , Dunedin , New Zealand
| | - W Murray Thomson
- School of Dentistry, University of Otago , Dunedin , New Zealand
| | - Trudy Milne
- School of Dentistry, University of Otago, Dunedin, New Zealand; Sir John Walsh Research Institute, University of Otago, Dunedin, Otago, New Zealand
| | - Nigel Yeoh
- Dunedin School of Medicine, University of Otago , Dunedin , New Zealand
| | - Anita Nolan
- Dunedin School of Medicine, University of Otago, Dunedin, New Zealand; Oral Health, AUT, Auckland, New Zealand
| | - Grace Ettinger
- Department of Microbiology and Immunology, Western University, London, Ontario, Canada; Canadian Centre for Human Microbiome and Probiotic Research, Lawson Health Research Institute, London, Ontario, Canada
| | - Gregor Reid
- Department of Microbiology and Immunology, Western University, London, Ontario, Canada; Canadian Centre for Human Microbiome and Probiotic Research, Lawson Health Research Institute, London, Ontario, Canada; Division of Urology, Department of Surgery, University of Western Ontario, London, Ontario, Canada
| | - Gregory B Gloor
- Canadian Centre for Human Microbiome and Probiotic Research, Lawson Health Research Institute, London, Ontario, Canada; Department of Biochemistry, University of Western Ontario, London, Ontario, Canada
| | - Jeremy P Burton
- Department of Microbiology and Immunology, Western University, London, Ontario, Canada; Canadian Centre for Human Microbiome and Probiotic Research, Lawson Health Research Institute, London, Ontario, Canada; Division of Urology, Department of Surgery, University of Western Ontario, London, Ontario, Canada
| | - Mary P Cullinan
- School of Dentistry, University of Otago, Dunedin, New Zealand; Sir John Walsh Research Institute, University of Otago, Dunedin, Otago, New Zealand
| | - Simon M Stebbings
- Dunedin School of Medicine, University of Otago , Dunedin , New Zealand
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20
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Association of rs11209032 and rs1004819 Polymorphisms in Interleukin-23 Receptor Gene With Ankylosing Spondylitis. Arch Rheumatol 2016; 31:201-207. [PMID: 29900935 DOI: 10.5606/archrheumatol.2016.5827] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2015] [Accepted: 01/08/2016] [Indexed: 11/21/2022] Open
Abstract
Objectives This study aims to investigate the distribution of human leukocyte antigen B27 (HLA-B27) alleles (+/-) and interleukin-23 receptor (IL-23R) gene rs11209032 and rs1004819 polymorphisms among ankylosing spondylitis (AS) patients in a Turkish cohort. Patients and methods The study sample comprised 106 AS patients (89 males, 18 females; mean age 38.9±10 years; range 19 to 65 years) and 82 healthy controls (70 males, 12 females; mean age 32.15±7.07 years; range 19 to 51 years). Distribution of HLA-B27 alleles (+)/(-) in AS patients were observed by reverse hybridization technique. Genotyping of IL-23R rs11209032 and rs1004819 polymorphisms of AS patients and healthy controls were performed by real time polymerase chain reaction. Results Of the AS patients, 69 (65.1%) were HLA-B27 positive. Distribution of rs11209032 genotype frequencies in AS group were 31.1% for GG, 50.9% for GA, and 17.9% for AA; while in control group, it was 34.1% for GG, 53.7% for GA, and 12.2% for AA. Distribution of rs1004819 genotype frequencies in AS group were 30.2% for CC, 52.8% for CT, and 17.0% for TT; while in control group, it was 42.7% for CC, 46.3% for CT, and 11.0% for TT. There was no significant difference between AS patients and controls in terms of genotype frequencies of IL-23R gene rs11209032 and rs1004819 polymorphisms. Conclusion No association was found between AS and IL23R rs11209032 and rs1004819 polymorphisms in this Turkish AS cohort.
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21
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Ghasemi-rad M, Attaya H, Lesha E, Vegh A, Maleki-Miandoab T, Nosair E, Sepehrvand N, Davarian A, Rajebi H, Pakniat A, Fazeli SA, Mohammadi A. Ankylosing spondylitis: A state of the art factual backbone. World J Radiol 2015; 7:236-252. [PMID: 26435775 PMCID: PMC4585948 DOI: 10.4329/wjr.v7.i9.236] [Citation(s) in RCA: 30] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/22/2014] [Revised: 03/04/2015] [Accepted: 06/16/2015] [Indexed: 02/06/2023] Open
Abstract
Ankylosing spondylitis (AS) is a chronic inflammatory disease that affects 1% of the general population. As one of the most severe types of spondyloarthropathy, AS affects the spinal vertebrae and sacroiliac joints, causing debilitating pain and loss of mobility. The goal of this review is to provide an overview of AS, from the pathophysiological changes that occur as the disease progresses, to genetic factors that are involved with its onset. Considering the high prevalence in the population, and the debilitating life changes that occur as a result of the disease, a strong emphasis is placed on the diagnostic imaging methods that are used to detect this condition, as well as several treatment methods that could improve the health of individuals diagnosed with AS.
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Adizie T, Adebajo AO. Travel- and immigration-related problems in rheumatology. Best Pract Res Clin Rheumatol 2015; 28:973-85. [PMID: 26096097 DOI: 10.1016/j.berh.2015.04.006] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2022]
Abstract
Health problems are self-reported by up to 64% of travellers to the developing world. Traditionally, rheumatic symptoms are accorded little significance, but many travellers do return home with musculoskeletal complaints. The assessment of these patients is often hindered by the Western clinician's lack of familiarity with the types of infections that the patient may have encountered while travelling. Standard serological tests for autoimmune diseases can be unreliable in the setting of concomitant tropical infection, and these infections themselves can have musculoskeletal manifestations. Even in the absence of tropical infection, laboratory investigation of musculoskeletal symptoms in individuals of different ethnicities is challenging due to genetic and physiological variation. This review focusses on addressing the impact global migration has had on rheumatological clinical practice.
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Affiliation(s)
- T Adizie
- Rheumatology Department, Solihull Hospital, Solihull B91 2JL, UK
| | - A O Adebajo
- Academic Rheumatology Group, Faculty of Medicine, University of Sheffield, Sheffield S10 2RX, UK.
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Nemat-Gorgani N, Edinur HA, Hollenbach JA, Traherne JA, Dunn PPJ, Chambers GK, Parham P, Norman PJ. KIR diversity in Māori and Polynesians: populations in which HLA-B is not a significant KIR ligand. Immunogenetics 2014; 66:597-611. [PMID: 25139336 PMCID: PMC4198482 DOI: 10.1007/s00251-014-0794-1] [Citation(s) in RCA: 30] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/14/2014] [Accepted: 08/04/2014] [Indexed: 12/25/2022]
Abstract
HLA class I molecules and killer cell immunoglobulin-like receptors (KIR) form a diverse system of ligands and receptors that individualize human immune systems in ways that improve the survival of individuals and populations. Human settlement of Oceania by island-hopping East and Southeast Asian migrants started ~3,500 years ago. Subsequently, New Zealand was reached ~750 years ago by ancestral Māori. To examine how this history impacted KIR and HLA diversity, and their functional interaction, we defined at high resolution the allelic and haplotype diversity of the 13 expressed KIR genes in 49 Māori and 34 Polynesians. Eighty KIR variants, including four 'new' alleles, were defined, as were 35 centromeric and 22 telomeric KIR region haplotypes, which combine to give >50 full-length KIR haplotypes. Two new and divergent variant KIR form part of a telomeric KIR haplotype, which appears derived from Papua New Guinea and was probably obtained by the Asian migrants en route to Polynesia. Māori and Polynesian KIR are very similar, but differ significantly from African, European, Japanese, and Amerindian KIR. Māori and Polynesians have high KIR haplotype diversity with corresponding allotype diversity being maintained throughout the KIR locus. Within the population, each individual has a unique combination of HLA class I and KIR. Characterizing Māori and Polynesians is a paucity of HLA-B allotypes recognized by KIR. Compensating for this deficiency are high frequencies (>50 %) of HLA-A allotypes recognized by KIR. These HLA-A allotypes are ones that modern humans likely acquired from archaic humans at a much earlier time.
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Affiliation(s)
- Neda Nemat-Gorgani
- Departments of Structural Biology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA94305. USA
| | - Hisham A. Edinur
- School of Health Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia
| | - Jill A. Hollenbach
- Department of Neurology, University of California, San Francisco School of Medicine, San Francisco, CA94158, USA
| | - James A. Traherne
- Division of Immunology, Department of Pathology and Cambridge Institute for Medical Research, University of Cambridge, CB2 1QP, UK
| | - Paul P. J. Dunn
- Tissue Typing Laboratory, New Zealand Blood Service, Auckland, New Zealand
| | | | - Peter Parham
- Departments of Structural Biology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA94305. USA
| | - Paul J. Norman
- Departments of Structural Biology and Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA94305. USA
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