The rs738409 (I148M) Variant of the PNPLA3 Gene and Type 2 Diabetes in Yakutia

Abstract

The purpose of our research was to study the association of the PNPLA3 SNP rs738409 (C>G) with type 2 diabetes (T2D) in the Yakuts. The frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP was in accordance with HWE. There were no statistically significant differences in the distribution of alleles and genotypes of the PNPLA3 SNP rs738409 (C>G) between T2D patients and non-T2D patients (P>0.05); the G allele and homozygous GG genotype prevailed in both groups. In T2D patients, a high frequency of the G allele (74.1%) was found, with a predominance of the GG genotype (58.5%). We also found that the mutant allele frequency is higher than in the studied populations of the world. Further studies with larger sample size are required to achieve sufficient statistical power to detect the association of the PNPLA3 SNP (rs738409 with the development of T2D in Yakut patients.

Keywords

• type 2 diabetes
• gene polymorphism
• non-alcoholic fatty liver disease
• Yakut population