Polymorphism of the adiponutrin gene (PNPLA3) in the indigenous inhabitants of the Republic of Sakha (Yakutia) with type 2 diabetes mellitus

Abstract

Rationale:The association of rs738409 I148M polymorphism with type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease has been confirmed for several ethnic and territorial groups. Up to now, no such studies have been performed in the populations of Yakutia.Aim:To study allele frequency distribution and to identify associations of the PNPLA3 gene polymorphism (rs738409 C>G) with T2DM in the Yakuts.Materials and methods: DNA samples from 106 T2DM patients were used in the study; the control group included samples from 72 healthy volunteers. All study participants were ethnic Yakuts and were living in the territory of the Republic of Sakha (Yakutia), Russian Federation. rs738409 polymorphism of the PNPLA3 gene was studied by polymerase chain reaction and by restriction fragment length polymorphism.Results:There were no significant difference in the distribution of the allele frequencies and genotypes of the polymorphous variant of the PNPLA3 gene (rs738409) between the T2DM patients and the healthy control. Both groups showed prevailing allele G (р = 0.01) and homozygous genotype GG (96%).Conclusion:High frequency of the allele G (74.1%) with predominance of GG genotype (58.5%) was found in type 2 diabetic patients.