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Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes

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....

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Autores principales: Mahmoud, Ismail Sami, Homsi, Ayat, Al-Ameer, Hamzeh J, Alzyoud, Jihad, Darras, Mais, Shhab, Mohammad Al, Zihlif, Malek, Hatmal, Ma’mon M, Alshaer, Walhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422854/
https://www.ncbi.nlm.nih.gov/pubmed/30891153
http://dx.doi.org/10.4239/wjd.v10.i3.181
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author Mahmoud, Ismail Sami
Homsi, Ayat
Al-Ameer, Hamzeh J
Alzyoud, Jihad
Darras, Mais
Shhab, Mohammad Al
Zihlif, Malek
Hatmal, Ma’mon M
Alshaer, Walhan
author_facet Mahmoud, Ismail Sami
Homsi, Ayat
Al-Ameer, Hamzeh J
Alzyoud, Jihad
Darras, Mais
Shhab, Mohammad Al
Zihlif, Malek
Hatmal, Ma’mon M
Alshaer, Walhan
author_sort Mahmoud, Ismail Sami
collection PubMed
description 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.
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spelling pubmed-64228542019-03-19 Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes Mahmoud, Ismail Sami Homsi, Ayat Al-Ameer, Hamzeh J Alzyoud, Jihad Darras, Mais Shhab, Mohammad Al Zihlif, Malek Hatmal, Ma’mon M Alshaer, Walhan World J Diabetes Case Control Study 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. Baishideng Publishing Group Inc 2019-03-15 2019-03-15 /pmc/articles/PMC6422854/ /pubmed/30891153 http://dx.doi.org/10.4239/wjd.v10.i3.181 Text en ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. http://creativecommons.org/licenses/by-nc/4.0/ 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.
spellingShingle Case Control Study
Mahmoud, Ismail Sami
Homsi, Ayat
Al-Ameer, Hamzeh J
Alzyoud, Jihad
Darras, Mais
Shhab, Mohammad Al
Zihlif, Malek
Hatmal, Ma’mon M
Alshaer, Walhan
Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title_full Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title_fullStr Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title_full_unstemmed Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title_short Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes
title_sort screening the rfx6-dna binding domain for potential genetic variants in patients with type 2 diabetes
topic Case Control Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422854/
https://www.ncbi.nlm.nih.gov/pubmed/30891153
http://dx.doi.org/10.4239/wjd.v10.i3.181
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