Liver Cirrhosis as the Outcome of Non-Alcoholic Fatty Liver Disease Associated with PNPLA3 Gene RS738409 Polymorphism

Relevance: Non-alcoholic fatty liver disease is the most common liver disease worldwide. Although the disease usually has a favorable, asymptomatic course, in some cases it can occur in the form of non-alcoholic steatohepatitis, and some patients may develop cirrhosis of the liver and hepatocellular carcinoma. There are more and more foreign studies proving the relationship of genetic factors with the progression of Non-alcoholic fatty liver disease. However, information about this association in the Russian Federation remains scarce.Goal of the study: to assess the prevalence of patatinlike phospholipase domain-containing protein 3 gene variants in patients with Non-alcoholic fatty liver disease-related cirrhosis of the liver in the Russian population sample and the effect of the mutation on the course of the disease.Materials and methods: We formed three groups of patients. Group I included 30 patients with Non-alcoholic fatty liver disease-related cirrhosis of the liver. Group II included 46 patients with Non-alcoholic fatty liver disease at the non-cirrhotic stage. Group III included 25 healthy volunteers. A retrospective analysis of patient history data was performed. We analyzed the results of biochemical blood tests, coagulogram, and ultrasound examination of abdominal organs from the medical records of patients in groups I and II. Patients from groups I and II were additionally examined using hepatic shear elastometry using the aixplorer multiwave ultrasound system (SuperSonic Imagine, USA). Alleles of the patatin-like phospholipase domain-containing protein 3 gene were detected using polymerase chain reaction–restriction fragment length polymorphism.Results. During the study, we obtained statistically reliable links between Non-alcoholic fatty liver disease and the presence of a mutation in the patatin-like phospholipase domain-containing protein 3 gene (RR-2.171; 95% CI: 1.131-4.170; χ2=6.730769; p=0.00948), between liver cirrhosis and the presence of a mutation in the PNPLA3 gene (RR-4.011; 95% CI: 1.558-10.324; p=0.0003), and the relationship between the frequency of occurrence of the GG genotype of the patatin-like phospholipase domaincontaining protein 3 gene with increasing the stage of liver fibrosis in the Russian population sample.Conclusion: The patatin-like phospholipase domain-containing protein 3 gene polymorphism rs738409 is a factor in the progression of Non-alcoholic fatty liver disease to high stages of fibrosis and liver cirrhosis. Detecting of this polymorphism in patients with NAFLD in Russian population may be useful for identifying high-risk groups for disease progression