TM6SF2 gene polymorphism and laboratory data and colon microbiome features in patients with non-alcoholic steatohepatitis (Interim results of a pilot project)

Currently, the prevalence of non-alcoholic fatty liver disease (NAFLD) worldwide, including its advanced variants such as non-alcoholic steatohepatitis (NASH), liver cirrhosis (LC) and, in some cases, hepatocellular carcinoma (HCC), is growing annually, but the pathogenesis and treatment of this disease remain poorly understood. Non-alcoholic steatohepatitis (NASH) is one of the most progressive liver diseases characterized by inflammation and damage to hepatocytes against the background of fatty infiltration of the liver. In recent years, special attention has been paid to genetic factors affecting the development and progression of NASH. One of these factors is the TM6SF2 gene polymorphism, which has been associated with lipid metabolism and liver function in patients with NASH. An important aspect of the study is also the relationship of TM6SF2 polymorphism with changes in the intestinal microbiome and laboratory parameters, which may affect the development of the disease. The aim of this study is to study the features of the colon microbiome in patients with an established diagnosis of NASH, with polymorphism in the TM6SF2 gene, as well as in patients without polymorphism in the previously described gene. The prerequisite for this kind of study was a modern view on the influence of genetic aspects and the composition of the intestinal microflora on the degree of progression and prognosis of NAFLD. Methods: a total of 14 patients with an established diagnosis of NASH were recruited. Other possible etiological causes of hepatitis, such as viral, autoimmune, alcoholic, etc. liver damage, were excluded from the patients. Steatosis was classified as mild, moderate, and severe using the latest FibroScan touch 502. The colon microbiome features were assessed using semiconductor sequencing, polymorphism in the TM6SF2 gene, and clinical parameters were determined. Results. According to the results of our study, statistically reliable data on the relationship between the colon microbiome and polymorphism in the TM6SF2 gene, unfortunately, were not found. Conclusions. We understand that for this type of genetic study, we do not have a large sample size. To obtain more reliable data, we plan to continue recruiting patients for this study.Key words: non-alcoholic fatty liver disease, non-alcoholic steatohepatitis, TM6SF2 gene, colon microbiome.