Validation of genome-wide association studies (GWAS)-identified type 2 diabetes mellitus risk variants in Pakistani Pashtun population
doi.org/10.15605/jafes.037.S5
- Author:
Asif Jan
1
;
Zakiullah
1
;
Fazli Khuda
2
;
Rani Akbar
3
Author Information
1. University of Peshawar, Pakistan
2. University of Peshawar
3. Abdul Wali Khan University, Mardan, Pakistan
- Publication Type:Journal Article
- Keywords:
European GWAS;
SNPs validation;
replication study;
Pashtun population
- MeSH:
Type 2 Diabetes Mellitus
- From:
Journal of the ASEAN Federation of Endocrine Societies
2023;38(S1):55-61
- CountryPhilippines
- Language:English
-
Abstract:
Objective:Recent GWAS largely conducted in European populations have successfully identified multiple genetic risk variants associated with Type 2 Diabetes Mellitus (T2DM). However, the effects conferred by these variants in the Pakistani population have not yet been fully elucidated. The objective of this study was to examine European GWAS- identified T2DM risk variants in the Pakistani Pashtun population to better understand the shared genetic basis of T2DM in the European and Pakistani cohorts.
Methodology:A total of 100 T2DM patients and 100 healthy volunteers of Pashtun ethnicity were enrolled in this study. Both groups were genotyped for 8 selected single nucleotide polymorphisms (SNPs) using the Sequenom MassARRAY® platform. The association between selected SNPs and T2DM was determined by using appropriate statistical tests.
Results:Of the 8 studied SNPs, 5 SNPs, SLC30A8/ rs13266634 (p=0.031, OR=2.13), IGF2BP2/ rs4402960 (p=0.001, OR=3.01), KCNJ11/ rs5219 (p=0.042, OR=1.78), PPARG/ rs1801282 (p=0.042, OR=2.81) and TCF7L2/ rs7903146 (p=0.00006, 3.41) had a significant association with T2DM. SNP GLIS3/ rs7041847 (p=0.051, OR=2.01) showed no sufficient evidence of association. SNPs KCNQ1/ rs2237892 (p=0.140, OR=1.61) and HHEX/IDE/ s1111875 (p=0.112, OR=1.31) showed opposite allelic effects and were not validated for T2DM risk in the study population. Among the studied SNPs, TCF7L2/ rs7903146 showed the most significant association.
Conclusion:Our study finding indicates that selected genome-wide significant T2DM risk variants previously identified
in European descent also increase the risk of developing T2DM in the Pakistani Pashtun population.
- Full text:2489-Article Text-23029-1-10-20230509.pdf
