ometendoОжирение и метаболизмObesity and metabolism2071-87132306-5524Endocrinology Research Centre10.14341/omet12855ometendo-12855Research ArticleОБЗОРЫREVIEWSРоль полиморфизмов генов PNPLA3, MBOAT7 и TM6SF2 в развитии неалкогольной жировой болезни печени при метаболическом синдромеThe role of polymorphisms of PNPLA3, MBOAT7, and TM6SF2 in the development of non-alcoholic fatty liver disease in metabolic syndromehttps://orcid.org/0000-0003-3992-9207СмирноваО. В.SmirnovaO. V.

Смирнова Ольга Валентиновна, д.м.н., профессор

Researcher ID: C-2722-2018Scopus Author ID: 56350970700eLibrary SPIN: 2198-0265

Красноярск

Olga V. Smirnova, MD, PhD, Professor

Researcher ID: C-2722-2018Scopus Author ID: 56350970700eLibrary SPIN: 2198-0265

Krasnoyarsk

ovsmirnova71@mail.ruhttps://orcid.org/0000-0003-1295-9262ЛагутинскаяД. В.LagutinskayaD. V.

Лагутинская Дарья Владимировна

Scopus Author ID: 57208819963eLibrary SPIN: 4745-2729

660022, Красноярск, ул. Партизана Железняка, д. 3г

Darya V. Lagutinskaya

Scopus Author ID: 57208819963eLibrary SPIN: 4745-2729

3g Partizana Zheleznyaka street, 660022 Krasnoyarsk

dlagut1210@gmail.comСибирский федеральный университетSiberian Federal University202203082022192166170Copyright © Смирнова О.В., Лагутинская Д.В., 20222022Смирнова О.В., Лагутинская Д.В.Smirnova O.V., Lagutinskaya D.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.omet-endojournals.ru/jour/article/view/12855

Неалкогольная жировая болезнь печени в настоящее время поражает более 30% населения. Помимо роли образа жизни и характера питания, последние исследования подчеркивают роль полиморфизмов генов, связанных с катаболизмом и анаболизмом жиров, в манифестации данного состояния и его прогрессии. В работе проанализированы зарубежные публикации, посвященные молекулярным и биохимическим аспектам влияния данных полиморфизмов на состояние печени, а также работы, изучающие их влияние на маркеры печеночной патологии за последние 10 лет. Так, полиморфизмы генов PNPLA3, MBOAT7 и TM6SF2, влияя на функциональность экспрессируемых ими белков, приводят к изменению метаболизма жирных кислот в печени, что, в свою очередь, ведет к развитию неалкогольной жировой болезни печени и ее прогрессии. Несмотря на то что вклад полиморфизма rs738409 гена PNPLA3 неплохо описан как в зарубежной, так и в отечественной литературе, полиморфизмы генов MBOAT7 и TM6SF2 и их влияние на неалкогольную жировую болезнь печени, равно как и лежащие в ее основе молекулярно-биохимические механизмы, изучены куда хуже в зарубежных исследованиях и мало упоминаются в российских. Помимо этого, требует дополнительных исследований вопрос выраженности влияния вышеуказанных полиморфизмов на популяции разной этнической и возрастной принадлежности. Данная статья пытается систематизировать имеющиеся данные по этим вопросам.

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.

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The authors declare that there are no conflicts of interest present.