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

doi:10.4239/wjd.v10.i3.181

Advanced Search

BPG is committed to discovery and dissemination of knowledge

Home / Archive / Volume 10, Issue 3

This Article

Peer-Review Report of This Article

CrossCheck and Google Search of This Article

Academic Rules and Norms of This Article

Citation of this article

Corresponding Author of This Article

Research Domain of This Article

Article-Type of This Article

Open-Access Policy of This Article

Times Cited Counts in Google of This Article

Number of Hits and Downloads for This Article

Total Article Views (12636)

All Articles published online

The chart showing PDF series, WORD series, HTML series, Figures (1-1) series, Tables (1-3) series.

Item

Count

PDF

555

WORD

260

HTML

4815

Figures (1-1)

588

Tables (1-3)

518

Sum=6736

Featured Article

The chart showing Browse series, Download series.

Item

Count

Browse

781

Download

1661

Sum=2442

Publishing Process of This Article

Item

Count

Browse

1314

Download

2132

Sum=3446

Mar 15, 2019 (publication date) through Feb 12, 2026

Times Cited of This Article

Times Cited (1)

Journal Information of This Article

Publication Name

World Journal of Diabetes

ISSN

1948-9358

Publisher of This Article

Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

- Full Article with Cover (PDF)
- Full Article (XML)

Case Control Study

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.

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.

Keywords: Regulatory factor X6; Genetic variant; Diabetes; DNA binding domain

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.