The frequencies of polymorphisms of PNPLA3 and HFE genes associated with potentially non-alcoholic fatty liver disease in patients with metabolic syndrome in the Krasnoyarsk Territory
https://doi.org/10.25557/2073-7998.2023.06.32-37
Abstract
The aim of the study was to assess the prevalence of polymorphisms of the PNPLA3 (rs738409), HFE (rs1800562, rs1799945, rs1800730) genes in a group of patients with metabolic syndrome and non-alcoholic fatty liver disease living in the Krasnoyarsk Territory. In the course of the work, groups of patients with metabolic syndrome and non-alcoholic fatty liver disease (n=72) and practically healthy volunteers (n=83) were formed. The data of the frequency of polymorphisms were obtained and compared with global frequencies. DNA extraction was performed from whole blood leukocytes; RT-PCR was performed using hydrolysis oligonucleotide probes.
Results. In practically healthy volunteers living in the Krasnoyarsk Territory, there were no differences in the frequency of alleles and genotypes of polymorphisms of the PNPLA3, HFE, genes compared to Caucasians. In patients with metabolic syndrome and non-alcoholic fatty liver disease, a high prevalence of the mutant allele T and the AT genotype, alow frequency of the AA genotype of the HFE gene (rs1800730), and a low occurrence of the CG genotype of the HFE gene polymorphism (rs1799945) were found.
Supporting agencies: The study is carried out according to State Order No. 0287-2021-0005.
About the Authors
O. V. Smirnova
Research Institute for Medical Problems in the North - Division of Federal Research Center “Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences”; Siberian Federal University
Russian Federation
Russian Federation
3 g, Partizana Zheleznyaka st., Krasnoyarsk, 660022
79, Svobodny pr., Krasnoyarsk, 660041
D. V. Lagutinskaya D.V
Research Institute for Medical Problems in the North - Division of Federal Research Center “Krasnoyarsk Scientific Center of the Siberian Branch of the Russian Academy of Sciences”; Siberian Federal University
Russian Federation
Russian Federation
3 g, Partizana Zheleznyaka st., Krasnoyarsk, 660022
79, Svobodny pr., Krasnoyarsk, 660041
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Review
For citations:
Smirnova O.V., Lagutinskaya D.V D.V. The frequencies of polymorphisms of PNPLA3 and HFE genes associated with potentially non-alcoholic fatty liver disease in patients with metabolic syndrome in the Krasnoyarsk Territory. Medical Genetics. 2023;22(6):32-37. (In Russ.) https://doi.org/10.25557/2073-7998.2023.06.32-37
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