Mahmoud IS, Homsi A, Al-Ameer HJ, Alzyoud J, Darras M, Shhab MA, Zihlif M, Hatmal MM, Alshaer W. Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes. World J Diabetes 2019; 10(3): 181-188 [PMID: 30891153 DOI: 10.4239/wjd.v10.i3.181]
Corresponding Author of This Article
Ismail Sami Mahmoud, PhD, Doctor, researcher and lecturer, Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, The Hashemite University, Zarqa 13133, Jordan. ismails@hu.edu.jo
Research Domain of This Article
Biochemistry & Molecular Biology
Article-Type of This Article
Case Control Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Diabetes. Mar 15, 2019; 10(3): 181-188 Published online Mar 15, 2019. doi: 10.4239/wjd.v10.i3.181
Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
Ismail S Mahmoud, Ayat Homsi, Hamzeh J Al-Ameer, Jihad Alzyoud, Mais Darras, Mohammad Al Shhab, Malek Zihlif, Ma’mon M Hatmal, Walhan Alshaer
Ismail S Mahmoud, Jihad Alzyoud, Mais Darras, Ma’mon M Hatmal, Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, The Hashemite University, Zarqa 13133, Jordan
Ayat Homsi, Walhan Alshaer, Cell Therapy Centre, The University of Jordan, Amman 11942, Jordan
Hamzeh J Al-Ameer, Mohammad Al Shhab, Malek Zihlif, Department of Pharmacology, Faculty of Medicine, The University of Jordan, Amman 11942, Jordan
Author contributions: Mahmoud IS designed the study; Al-Ameer HJ and Darras M collected patient sample and data; Mahmoud IS, Al-Ameer HJ, Homsi A and Shhab MA made the lab experiment; Alzyoud J and Mahmoud IS analysed statistical data; Alshaer W, Zihlif M and Hatmal MM made contribution of new reagents or analytical tools; Mahmoud IS prepared the manuscript.
Institutional review board statement: The study was ethically approved by the IRB board of Jordan University Hospital (JUH) No. 10-2017-1737, Decision No. 2017-134. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee as well as the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Informed consent statement: Informed consents were obtained from human participants in this research.
Conflict-of-interest statement: The authors declare no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Ismail Sami Mahmoud, PhD, Doctor, researcher and lecturer, Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, The Hashemite University, Zarqa 13133, Jordan. ismails@hu.edu.jo
Telephone: +96-279-7545880
Received: February 6, 2019 Peer-review started: February 10, 2019 First decision: February 19, 2019 Revised: March 8, 2019 Accepted: March 11, 2019 Article in press: March 11, 2019 Published online: March 15, 2019 Processing time: 37 Days and 20.3 Hours
Abstract
BACKGROUND
The regulatory factor X6 (RFX6), a member of regulatory factor X family, is known to play a key role in the development and differentiation of pancreatic beta cells as well as insulin production and secretion. However, the potential role of RFX6 in type 2 diabetes (T2D) is still unclear.
AIM
Recent studies have indicated that RFX6 binding to DNA could be disrupted in diabetes. Therefore, in this study we investigated whether genetic mutations are present in the DNA binding domain of RFX6 gene that could abrogate its function in T2D.
METHODS
A cohort of T2D patients was enrolled in this study, and the gene encoding the DNA binding domain of RFX6 was amplified by polymerase chain reaction and then analysed by direct DNA sequencing.
RESULTS
The DNA sequence analysis revealed the absence of any exonic mutation. However, we have identified a new heterozygous single nucleotide polymorphism (IVS6+31 C>T) in the intronic region of DNA binding domain gene that is present in 9.2% and 8.5% of diabetic and control people, respectively (P = 0.97).
CONCLUSION
We report the absence of any significant genetic variant that could affect the function of RFX6-DNA binding domain in T2D.
Core tip: Regulatory factor X6 (RFX6) protein plays a key role in the differentiation of pancreatic beta cells as well as insulin production and secretion. Several lines of evidence have indicated that RFX6 binding to DNA could be disrupted in diabetes; however, the mechanism underlying this process is still unknown. In this case-control study, we analysed the genotype of RFX6-DNA binding domain in diabetes patients in comparison to healthy controls. Our results indicate the absence of any significant genetic variant in the DNA binding domain that could affect the function of RFX6 in type 2 diabetes.
