Polymorphism of PNPLA3 and TM6SF2 genes in patients with nonalcoholic fatty liver disease resident at Gomel region

Objective. To conduct a comparative analysis of the genotype distribution of polymorphic variants of the PNPLA3 gene (rs738409) and the TM6SF2 gene (rs58542926) in patients with nonalcoholic fatty liver disease (NAFLD) and healthy volunteers residen at Gomel region. Materials and methods . 127 patients with nonalcoholic fatty liver disease without liver cirrhosis aged 55 (46; 62) and 98 healthy volunteers aged 41 (31;44) were examined. DNA was isolated using a set of reagents manufactured by «ArtBioTech» LLC, according to the manufacturer’s instructions (the kit is designed to isolate RNA and DNA from a wide range of clinical material). Results . The rs738409 polymorphism in the PNPLA3 gene and rs58542926 of the TM6SF2 gene is associated with the progressive course of nonalcoholic fatty liver disease (the development of steatosis, fibrosis and hepatocellular carcinoma). Through the study of the polymorphism of the PNPLA3 gene the GG genotype occurred in 43 (34%) patients with nonalcoholic fatty liver disease, and it showed a significant difference with the comparison group — 21 people (21,4%), p=0.0356, the GC genotype was determined in 17 patients (13,3%) and 15 healthy individuals (15,3%), p=0.7040. When analyzing the polymorphism of the TM6SF2 gene, TT genotype was found in 2 (1.5%) patients with nonalcoholic fatty liver disease, 3 (3%) healthy individuals; the TC genotype was determined in 24 (19%) patients and 16 (16.4%) healthy individuals. Conclusion . As a result of the study, it was revealed that the prevalence of the GG genotype of the PNPLA3 gene is significantly higher in patients with nonalcoholic fatty liver disease than in healthy individuals. In healthy individuals the CC genotype was the most common (63,3%) among the genotypes of the polymorphic locus rs738409 PNPLA3. The polymorphic locus rs58542926 TM6SF2 was characterized by a more frequent presence of the CC genotype (80,6%).