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Abstract <p>The risk of development and progression of nonalcoholic fatty liver disease (NAFLD) and metabolic abnormalities associated with it is connected not only with lifestyle but also with hereditary factors. We studied the relationship of polymorphism markers of the <i>PNPLA3</i> (rs738409), <i>UCP2</i> (rs660339), and <i>HFE</i> (rs1800562, rs1800730, rs1799945) genes with metabolic changes depending on the clinical form of NAFLD. For this study, 116 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; polymorphic loci rs1800730 and rs660339 are associated only with dyslipidemia in patients with steatosis and patients with steatohepatitis.</p>

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Effect of PNPLA3 (rs738409), UCP2 (rs660339), and HFE (rs1800562, rs1800730, rs1799945) Gene Polymorphism Markers on Metabolic Parameters in Patients with Nonalcoholic Fatty Liver Disease

  • 期刊论文

  • 发表日期：

    2025年4月1日

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  • O. V. Smirnova,
  • D. V. Lagutinskaya,
  • E. V. Kasparov

摘要

Abstract

The risk of development and progression of nonalcoholic fatty liver disease (NAFLD) and metabolic abnormalities associated with it is connected not only with lifestyle but also with hereditary factors. We studied the relationship of polymorphism markers 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, 116 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; polymorphic loci rs1800730 and rs660339 are associated only with dyslipidemia in patients with steatosis and patients with steatohepatitis.