Genetic Predictors of Type 2 Diabetes in Yakuts

Abstract

The goal of this study was to investigate the distribution of alleles and genotypes of the KCNJ11 rs5219, PPARG rs1801282, TCF7L2 rs7903146/rs12255372 SNPs in Yakuts with T2D, in comparison with other ethnic populations. Methods and Results: The study cohort consisted of 26 Yakut patients diagnosed with T2D (YKT2D). Genotyping of rs5219 (KCNJ11), rs1801282 (PPARG), rs7903146 and rs12255372 (TCF7L2) SNPs was performed by pyrosequencing using PyroMark Q48 Autoprep sequencer (QIAGEN). The genotyping of the studied group of Yakuts did not reveal statistically significant differences between control groups and YKT2D patients with respect to the polymorphic variants of the KCNJ11, PPARG, and TCF7L2 genes. The allele frequency analysis of the polymorphisms of the KCNJ11, PPARG, and TCF7L2 genes demonstrated a low frequency of the risk T-allele in the TCF7L2 (rs7903146, rs12255372) in Asian populations, compared to other human populations. We identified three haplotypes [CG (90.5%), TT (6.8%), and TG (2.7%)] in the YKT2D cohort. Also, we observed a strong LD between two SNPs (rs7903146 and rs12255372) of the TCF7L2 gene in the majority of groups, including YKT2D (D '= 1, LOD = 4.92), except for African populations, where a very weak LD (D '= 0.001-0.435, LOD = 0.0-0.73) was observed.