Russian Journal of GeneticsRussian Journal of GeneticsГенетика0016-67583034-5103The Russian Academy of Sciences68220410.31857/S0016675825040076UAQMMRГЕНЕТИКА ЧЕЛОВЕКАResearch ArticleEffect of PNPLA3 (rs738409), UCP2 (rs660339) and HFE (rs1800562, rs1800730, rs1799945) gene polymorphisms on metabolic parameters in patients with nonalcoholic fatty liver diseaseВлияние маркеров полиморфизма генов PNPLA3 (rs738409), UCP2 (rs660339) и HFE (rs1800562, rs1800730, rs1799945) на метаболические показатели пациентов с неалкогольной жировой болезнью печениSmirnovaO. V.СмирноваО. В.
Russian Federation

Federal Research Center «Krasnoyarsk Scientific Center» of the Siberian Branch of the Russian Academy of Sciences

Федеральный исследовательский центр «Красноярский научный центр Сибирского отделения Российской академии наук»

ovsmirnova71@mail.ruLagutinskayaD. V.ЛагутинскаяД. В.
Russian Federation

Federal Research Center «Krasnoyarsk Scientific Center» of the Siberian Branch of the Russian Academy of Sciences

Федеральный исследовательский центр «Красноярский научный центр Сибирского отделения Российской академии наук»

ovsmirnova71@mail.ruKasparovЕ. V.КаспаровЕ. В.
Russian Federation

Federal Research Center «Krasnoyarsk Scientific Center» of the Siberian Branch of the Russian Academy of Sciences

Федеральный исследовательский центр «Красноярский научный центр Сибирского отделения Российской академии наук»

ovsmirnova71@mail.ruScientific Research Institute of Medical Problems of the NorthНаучно-исследовательский институт медицинских проблем СевераFederal UniversityСибирский федеральный университет27042025614667503062025Copyright ©; 2025, Russian Academy of SciencesCopyright ©; 2025, Российская академия наук2025Russian Academy of SciencesРоссийская академия наукhttps://transsyst.ru/0016-6758/article/view/682204

The risk of development and progression of non-alcoholic fatty liver disease (NAFLD) and associated with it metabolic abnormalities is connected not only with lifestyle, but also with hereditary factors. We studied the relationship of polymorphisms of the PNPLA3 (rs738409), UCP2 (rs660339) and HFE (rs1800562, rs1800730, rs1799945) genes with metabolic changes depending on the clinical form of NAFLD. For this study, 96 patients diagnosed with NAFLD and steatosis and steatohepatitis were examined. An assessment of metabolic parameters and genotyping using hydrolysis probes were performed. Polymorphism rs738409 is associated with the most pronounced changes in metabolic parameters in patients with steatohepatitis, polymorphisms rs1800730 and rs660339 are associated only with dyslipidemia in patients with steatosis and patients with steatohepatitis.

Риск развития и прогрессирования неалкогольной жировой болезни печени (НАЖБП) и ассоциированных с нею метаболических нарушений связан не только с образом жизни, но и с наследственными факторами. Нами была изучена связь полиморфных маркеров генов PNPLA3 (rs738409), UCP2 (rs660339) и HFE (rs1800562, rs1800730, rs1799945) с метаболическими изменениями в зависимости от клинической формы НАЖБП. Для настоящей работы были исследованы 116 пациентов с диагнозом НАЖБП с клиническими формами стеатоза и стеатогепатита. Проводилось исследование маркеров метаболических параметров и генотипирование с использованием гидролизных зондов. Полиморфизм rs738409 связан с наиболее выраженными изменениями метаболических показателей у пациентов со стеатогепатитом, полиморфные локусы rs1800730 и rs660339 связаны только с дислипидемией как у пациентов со стеатозом, так и у пациентов со стеатогепатитом.

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