The role of polymorphisms of PNPLA3, MBOAT7, and TM6SF2 in the development of non-alcoholic fatty liver disease in metabolic syndrome
https://doi.org/10.14341/omet12855
Abstract
Non-alcoholic fatty liver disease currently affects more than 30% of the population. Recent studies highlight the role of genetic polymorphisms in genes associated with fat catabolism and anabolism in the manifestation of this condition and its progression. The work analyzes foreign publications on the molecular and biochemical aspects of these polymorphisms, as well as works studying their effect on the state of the liver and markers of its pathology over the past 10 years. Thus, polymorphisms of the PNPLA3, MBOAT7, and TM6SF2, affecting the functionality of the proteins they express, lead to a change in the metabolism of fatty acids in the liver, which in turn leads to the development of NAFLD and its progression. Despite the fact that the contribution of the rs738409 polymorphism of the PNPLA3 gene is well described both in foreign and Russian articles, polymorphisms of the MBOAT7 and TM6SF2 genes and their effect on NAFLD, as well as the molecular biochemical mechanisms underlying it, have been studied much worse in foreign studies and are little mentioned in Russian ones. In addition, the issue of the severity of the influence of the above polymorphisms on populations of different ethnic and age groups requires additional research. This work attempts to systematize the available data on these issues.
About the Authors
O. V. Smirnova
Siberian Federal University
Olga V. Smirnova, MD, PhD, Professor
Researcher ID: C-2722-2018
Scopus Author ID: 56350970700
eLibrary SPIN: 2198-0265
Krasnoyarsk
D. V. Lagutinskaya
Siberian Federal University
Russian Federation
Russian Federation
Darya V. Lagutinskaya
Scopus Author ID: 57208819963
eLibrary SPIN: 4745-2729
3g Partizana Zheleznyaka street, 660022 Krasnoyarsk
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Smirnova O.V., Lagutinskaya D.V. The role of polymorphisms of PNPLA3, MBOAT7, and TM6SF2 in the development of non-alcoholic fatty liver disease in metabolic syndrome. Obesity and metabolism. 2022;19(2):166-170. (In Russ.) https://doi.org/10.14341/omet12855
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