Study of PNPLA3 gene polymorphism in patients with non-alcoholic fatty liver disease and various stages of fibrosis

Abstract

The aim of the study was to evaluate the diagnostic significance of the rs738409 C> G polymorphism of the PNPLA3 gene as a marker for the formation and progression of liver fibrosis in patients with non-alcoholic fatty disease (NAFLD). Materials and methods. An open case-control study of a group of patients with non-alcoholic fatty liver disease in the amount of 35 people was conducted. Conducted clinical, laboratory examination methods. Additionally, non-invasive serum fibrosis markers were studied: concentrations of insulin, leptin, adiponectin, matrix metalloproteinase-9 (MMP-9) and its inhibitors - tissue inhibitor of matrix metalloproteinase-1 and 2 (TIMP-1, TIMP-2). All patients underwent liver elastometry to assess the stage of fibrosis on the Metavir scale using the FibroScan apparatus (FibroScan). As a potential marker for the progression of liver fibrosis in NAFLD, PNPLA3 148M / I polymorphism (rs738409) was studied by PCR. Results. There are clinical signs that suggest that liver steatosis is more pronounced in carriers of the G allele of the PNPLA3 148M / I gene. For patients with NAFLD C / G PNPLA3 148M / I genotype, a more aggressive course of the disease with the formation of high progressive stages of fibrosis is characteristic. Conclusion. PNPLA3 148M / I polymorphism can be considered as a non-invasive marker reflecting the formation and progression of fibrotic changes in the liver tissue in patients with NAFLD.