zdorПроблемы здоровья и экологииHealth and Ecology Issues2220-09672708-6011Gomel State Medical University10.51523/2708-6011.2024-21-3-06zdor-2754Research ArticleКЛИНИЧЕСКАЯ МЕДИЦИНАCLINICAL MEDICINEПолиморфизм генов PNPLA3 и TM6SF2 у пациентов с неалкогольной жировой болезнью печени, проживающих в Гомельской областиPolymorphism of PNPLA3 and TM6SF2 genes in patients with nonalcoholic fatty liver disease resident at Gomel regionhttps://orcid.org/0000-0003-1609-9781БрановицкаяН. С.BranovitskayaN. S.

Брановицкая Наталья Сергеевна, старший преподаватель кафедры пропедевтики внутренних болезней,

Гомель

Natalia S. Branovitskaya, Senior Lecturer at the Department of Propedeutics of Internal Diseases,

Gomel

nata.branovitskaya@mail.ruУО "Гомельский государственный медицинский университет"Gomel State Medical University2024220720242134551Copyright © Брановицкая Н.С., 20242024Брановицкая Н.С.Branovitskaya N.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.gsmu.by/jour/article/view/2754Цель исследования

Цель исследования. Провести сравнительный анализ распределения генотипов полиморфных вариантов гена PNPLA3 (rs738409) и гена TM6SF2 (rs58542926) у пациентов с неалкогольной жировой болезнью печени (НАЖБП) и здоровых добровольцев, проживающих на территории Гомельской области.

Материалы и методы

Материалы и методы. Обследовано 127 пациентов с неалкогольной жировой болезнью печени без цирроза печени в возрасте 55 (46; 62) лет и 98 здоровых добровольцев в возрасте 41 (31; 44) года. ДНК выделяли с помощью набора реагентов производства ООО «АртБиоТех» (Республика Беларусь) согласно инструкции производителя (набор предназначен для выделения РНК и ДНК из широкого спектра клинического материала).

Результаты

Результаты. Полиморфизмы rs738409 в гене PNPLA3 и rs58542926 гена TM6SF2 ассоциированы с прогрессирующим течением неалкогольной жировой болезни печени (развитием стеатоза, фиброза и гепатоцеллюлярного рака). При исследовании полиморфизма гена PNPLA3 генотип GG у пациентов с неалкогольной жировой болезнью печени встречался в 43 (34 %) случаях и показал значимую разницу с группой сравнения — 21 человек (21,4 %), р = 0,0356, генотип GC определился у 17 пациентов (13,3 %) и 15 здоровых лиц (15,3 %), р = 0,7040. При анализе полиморфизма гена TM6SF2 генотип ТТ встречался у 2 (1,5 %) пациентов с неалкогольной жировой болезнью печени и 3 (3 %) здоровых лиц, генотип ТС определился у 24 (19 %) пациентов и у 16 (16,4 %) здоровых лиц.

Заключение

Заключение. В результате проведенного исследования выявлено, что у пациентов с неалкогольной жировой болезнью печени распространенность генотипа GG гена PNPLA3 значимо выше, чем у здоровых лиц. У здоровых лиц среди генотипов полиморфного локуса rs738409 PNPLA3 наиболее распространенным оказался генотип CC (63,3 %). Для полиморфного локуса rs58542926 TM6SF2 было характерно более частое присутствие генотипа СС (80,6 %).

Objective

Objective. To conduct a comparative analysis of the genotype distribution of polymorphic variants of the PNPLA3 gene (rs738409) and the TM6SF2 gene (rs58542926) in patients with nonalcoholic fatty liver disease (NAFLD) and healthy volunteers residen at Gomel region.

Materials and methods

Materials and methods. 127 patients with nonalcoholic fatty liver disease without liver cirrhosis aged 55 (46; 62) and 98 healthy volunteers aged 41 (31;44) were examined. DNA was isolated using a set of reagents manufactured by «ArtBioTech» LLC, according to the manufacturer’s instructions (the kit is designed to isolate RNA and DNA from a wide range of clinical material).

Results

Results. The rs738409 polymorphism in the PNPLA3 gene and rs58542926 of the TM6SF2 gene is associated with the progressive course of nonalcoholic fatty liver disease (the development of steatosis, fibrosis and hepatocellular carcinoma). Through the study of the polymorphism of the PNPLA3 gene the GG genotype occurred in 43 (34%) patients with nonalcoholic fatty liver disease, and it showed a significant difference with the comparison group — 21 people (21,4%), p=0.0356, the GC genotype was determined in 17 patients (13,3%) and 15 healthy individuals (15,3%), p=0.7040. When analyzing the polymorphism of the TM6SF2 gene, TT genotype was found in 2 (1.5%) patients with nonalcoholic fatty liver disease, 3 (3%) healthy individuals; the TC genotype was determined in 24 (19%) patients and 16 (16.4%) healthy individuals.

Conclusion

Conclusion. As a result of the study, it was revealed that the prevalence of the GG genotype of the PNPLA3 gene is significantly higher in patients with nonalcoholic fatty liver disease than in healthy individuals. In healthy individuals the CC genotype was the most common (63,3%) among the genotypes of the polymorphic locus rs738409 PNPLA3. The polymorphic locus rs58542926 TM6SF2 was characterized by a more frequent presence of the CC genotype (80,6%).

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