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首页> 外文期刊>Journal of genetics >Comparative analyses of genetic risk prediction methods reveal extreme diversity of genetic predisposition to nonalcoholic fatty liver disease (NAFLD) among ethnic populations of India
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Comparative analyses of genetic risk prediction methods reveal extreme diversity of genetic predisposition to nonalcoholic fatty liver disease (NAFLD) among ethnic populations of India

机译：遗传风险预测方法的比较分析显示，印度族裔人群中非酒精性脂肪肝疾病（NAFLD）的遗传易感性极端差异

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摘要

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 (R (2)=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.
机译：非酒精性脂肪肝疾病（NAFLD）是一种独特的病理学疾病，其特征是疾病范围从简单的脂肪变性到脂肪性肝炎，肝硬化和肝细胞癌。 NAFLD的患病率在不同种族中有所不同，从华裔的12％到西班牙裔的45％。在印度人口中，患病率的差异很大，从农村人口的9％到城市人口的32％不等，而且地理差异也很大。在这里，我们希望找出这种差异是否反映在他们的基因组成上。迄今为止，已经进行了几种候选基因和一些全基因组关联研究（GWAS），并且已经观察到单核苷酸多态性（SNP）和NAFLD之间的许多关联。在这项研究中，分析了在20个印度族裔人群（376个个体）中与NAFLD相关的SNP的风险等位基因频率（RAFs）。我们使用两种不同的方法来计算遗传风险评分，并比较它们的表现。发现三个Hapmap人群的NAFLD加性风险评分与其加权平均患病率的相关性很高（R（2）= 0.93）。后来，我们使用这种方法比较了印度裔人口中NAFLD的风险。根据我们的观察，与白种人相比，印度种姓人口的风险得分高，而白种人在疾病基因关联研究中经常被用作替代品，并且与印度种姓人口相似，并且远高于印度部落人口。

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