Prevalence and effect of PNPLA3 and TM6SF2 gene polymorphism on the course of non-alcoholic fatty liver disease
Year: 2025
Type: article
Study design: Observational Study
Abstract: Objective. To study prevalence and relationship of polymorphic variants of the PNPLA3 and TM6SF2 genes on liver function tests, as well as on lipid and carbohydrate metabolism parameters in patients with non-alcoholic fatty liver disease (NAFLD) living in the Gomel region. Materials and methods . A total of 152 patients with NAFLD without liver cirrhosis aged 56 [48;63] years were examined to determine the PNPLA 3 gene polymorphism. A total of 144 patients with NAFLD aged 56 [48;63] years were examined to determine the TM6SF2 gene polymorphism. DNA was isolated using a reagent kit manufactured by ArtBioTech LLC, Republic of Belarus, according to the manufacturer’s instructions (the kit is designed to isolate RNA and DNA from a wide range of clinical material). Results. In the study of prevalence genotype GG was identified in patients with NAFLD due to polymorphism of the PNPLA3 gene in 60 (39.5%) people, the GC genotype was determined in 22 patients (14.5%), the CC genotype - in 70 (46%) patients. When determining the prevalence of the TM6SF2 gene polymorphism It was established that the TT genotype was detected in 2 (1.3%) patients with NAFLD, TC genotype – in 30 (20.7%), CC genotype – in 112 (78%) patients. Conclusion . As a result of the study, a difference in the levels of alanine aminotransferase (ALT) and alkaline phosphatase (ALP) was found in patients with the rs738409 polymorphism in the PNPLA 3 gene (GG genotype) compared to the CC genotype (p=0.0243 and p=0.0029, respectively). Patients with the rs58542926 polymorphism of the TM6SF2 gene (TT +TC genotype) also had a higher level of ALP (p=0.0034) compared to the CC genotype.
Source: Health and Ecology Issues
Institution: Gomel State Medical University
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4414614317