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<p>Non-alcoholic fatty liver disease (NAFLD) may lead to liver failure, and sometimes to hepatocarcinoma. Genetics plays important role in susceptibility for the disease. India has high burden of NAFLD, however, information on its genetic susceptibility is lacking for Sikkim, a north east Himalayan state of India. We conducted a pilot study to determine the risk of <i>PNPLA3</i> gene polymorphism for NAFLD in this region. In a case control study including 30 cases and 25 controls, DNA was extracted from peripheral blood of the participants. SNP rs738409 [C &gt; G] of <i>PNPLA3</i> was detected by PCR followed by RFLP. Risk of NAFLD was higher in variant homozygotes and heterozygotes in comparison to the wild type homozygotes. Although the increased risk was not statistically significant, a large- scale study is required to find any possible association of this polymorphism with NAFLD in this Himalayan state. In addition to this, high frequency of the variant allele [G] observed in the control group (0.4) warrants further study to explore its putative association with NAFLD in this region.</p>

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Association of PNPLA3 Genetic Polymorphism with Non-Alcoholic Fatty Liver Disease in Sikkim: A Pilot Study

  • 期刊论文

  • 发表日期：

    2025年5月25日

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  • Vaishnavi Singh,
  • Arundhati Bag,
  • Bidita Khandelwal,
  • Debarghya Sutradhar

摘要

Non-alcoholic fatty liver disease (NAFLD) may lead to liver failure, and sometimes to hepatocarcinoma. Genetics plays important role in susceptibility for the disease. India has high burden of NAFLD, however, information on its genetic susceptibility is lacking for Sikkim, a north east Himalayan state of India. We conducted a pilot study to determine the risk of PNPLA3 gene polymorphism for NAFLD in this region. In a case control study including 30 cases and 25 controls, DNA was extracted from peripheral blood of the participants. SNP rs738409 [C > G] of PNPLA3 was detected by PCR followed by RFLP. Risk of NAFLD was higher in variant homozygotes and heterozygotes in comparison to the wild type homozygotes. Although the increased risk was not statistically significant, a large- scale study is required to find any possible association of this polymorphism with NAFLD in this Himalayan state. In addition to this, high frequency of the variant allele [G] observed in the control group (0.4) warrants further study to explore its putative association with NAFLD in this region.