Role of polymorphisms of the fat mass associated gene (FTO), leptin receptor (LEPR) in obese children and nonalcoholic fatty liver disease

Purpose of the study: to investigate the relationship of polymorphisms of the fatty weight associated (FTO) gene: p.23525T>A, p.A23525T (rs9939609), leptin receptor (LEPR) gene: p.233A>G, p. Arg223Gln (rs1137101) with the development of NAFLD on the background of obesity. Materials and Methods. A cross-sectional (one-stage) study was carried out in which 80 children aged 10-17 years were examined. Nucleic acids were isolated using a set of reagents “DNA-EXPRESS-blood” based on lysing solution. The study of polymorphic variants of the gene was carried out using “SNP-EXPRESS” kits by PCR method. Results. Children with obesity and NAFLD have statistically significant changes in the levels of AsAT, AlAT and other parameters characteristic of hepatobiliary system damage. The association of LEPR gene polymorphisms with NASH in obese children was revealed, as well as the protective effect of carrying the FTO gene genotype in relation to the development of NASH. Discussion. NAFLD is caused by multiple risk factors, including genetic aspects, which may contribute to the development of this pathology. Based on a number of domestic studies, an association between this disease in obese children and the presence of polymorphism of the LEPR gene, which is involved in the regulation of nutrition, encodes a protein that plays a key role in energy metabolism and metabolism, has been identified. This was confirmed by the results of our work. There is no information about the influence of the FTO gene and its polymorphisms on the development of NAFLD. Conclusion. Thus, the identification of genetic variants associated with the risk of developing NAFLD may be an important direction for early diagnosis and prevention of this disease in obese children.

Non alcoholic associated fatty liver disease, genotyping, LEPR gene, FTO gene

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