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      https://www.ias.ac.in/article/fulltext/jgen/094/01/0105-0113

    • Keywords

       

      nonalcoholic fatty liver disease; risk model; ethnicity; single-nucleotide polymorphism.

    • Abstract

       

      Nonalcoholic fatty liver disease (NAFLD) is a distinct pathologic condition characterized by a disease spectrum ranging from simple steatosis to steato-hepatitis, cirrhosis and hepatocellular carcinoma. Prevalence of NAFLD varies in different ethnic groups, ranging from 12% in Chinese to 45% in Hispanics. Among Indian populations, the diversity in prevalence is high, ranging from 9% in rural populations to 32% in urban populations, with geographic differences as well. Here, we wished to find out if this difference is reflected in their genetic makeup. To date, several candidate genes and a few genomewide association studies (GWAS) have been carried out, and many associations between single nucleotide polymorphisms (SNPs) and NAFLD have been observed. In this study, the risk allele frequencies (RAFs) of NAFLD-associated SNPs in 20 Indian ethnic populations (376 individuals) were analysed. We used two different measures for calculating genetic risk scores and compared their performance. The correlation of additive risk scores of NAFLD for three Hapmap populations with their weighted mean prevalence was found to be high (𝑅2 = 0.93). Later we used this method to compare NAFLD risk among ethnic Indian populations. Based on our observation, the Indian caste populations have high risk scores compared to Caucasians, who are often used as surrogate and similar to Indian caste population in disease gene association studies, and is significantly higher than the Indian tribal populations.

    • Author Affiliations

       

      Ankita Chatterjee1 Analabha Basu1 Abhijit Chowdhury2 3 Kausik Das2 Neeta Sarkar-Roy1 Partha P. Majumder1 Priyadarshi Basu1 3

      1. National Institute of Biomedical Genomics, Netaji Subhas Sanatorium (T. B. Hospital), Kalyani 741 251, India
      2. Institute of Post Graduate Medical Education and Research, J. C. Bose Road, Kolkata 700 020, India
      3. Biomedical Genomics Center, PG Polyclinic Building, Kolkata 700 020, India
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