Evaluation of type 2 diabetes risk variants (alleles) in the Pashtun ethnic population of Pakistan
doi.org/10.15605/jafes.037.S3
- Author:
Asif Jan
1
;
Muhammad Saeed
1
;
Zakiullah
1
;
Rani Akbar
2
;
Hamayun Khan
3
Author Information
1. University of Peshawar, Pakistan
2. Adul Wali Khan University Mardan, Pakistan
3. Islam College of Pharmacy, Gujranwala, Punjab, Pakistan
- Publication Type:Journal Article
- Keywords:
risk variants;
Pashtun population
- MeSH:
type 2 diabetes;
bioinformatics;
whole exome sequencing
- From:
Journal of the ASEAN Federation of Endocrine Societies
2023;38(S1):48-54
- CountryPhilippines
- Language:English
-
Abstract:
Objective:To evaluate the Type 2 Diabetes (T2D) risk variants in the Pashtun ethnic population of Khyber Pakhtunkhwa using nascent whole-exome sequencing (WES) to better understand the pathogenesis of this complex polygenic disorder.
Methodology:A total of 100 confirmed patients with T2D of Pashtun ethnicity were included in the study, DNA was extracted from whole blood samples, and paired-end libraries were prepared using the Illumina Nextera XT DNA library kit carefully following the manufacturer’s instructions. Illumina HiSeq 2000 was used to obtain sequences of the prepared libraries followed by bioinformatics data analysis.
Results:A total of n=11 pathogenic/likely pathogenic variants were reported in the CAP10, PAX4, IRS-2, NEUROD1, CDKL1 and WFS1. Among the reported variants CAP10/rs55878652 (c.1990-7T>C; p.Leu446Pro) and CAP10/rs2975766 (c.1996A>G; p.Ile666Val) identified were novel, and have not yet been reported for any disease in the database. The variants CAP10/rs7607759 (c.1510A>G, p.Thr504Ala), PAX4/rs712701 (c.962A>C; p.His321Pro), PAX4/ rs772936097 (c.748-3delT; p.Arg325Trp), IRS-2/rs1805097 (c.3170G>A; p.Gly1057Asp), NEUROD1/rs1801262 (c.133A>G; p.Thr45Ala), CDKL1/rs77152992 (c.1226C>T; p.Pro409Leu), WFS1/rs1801212 (c.997G>A; p.Val333Ile), WFS1/rs1801208 (c.1367G>A; p.Arg456His), and WFS1/rs734312 (c.1832G>A; p.Arg611His) are previously identified in other ethnic populations. Our study reconfirms the associations of these variants with T2D in the Pakistani Pashtun population.
Conclusion:In-silico analysis of exome sequencing data suggests a statistically substantial association of all (n=11)
identified variants with T2D in the Pashtun ethnic population. This study may serve as a foundation for performing
future molecular studies aimed at unraveling T2D associated genes.
- Full text:1141-Article Text-23027-1-10-20230509.pdf
