Prevalence and effect of PNPLA3 and TM6SF2 gene polymorphism on the course of non-alcoholic fatty liver disease

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.

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