Perlegen Sciences, Mountain View, California, USA.
Nat Genet. 2010 Jan;42(1):21-3. doi: 10.1038/ng.488. Epub 2009 Nov 29.
Two genome-wide association studies (GWAS) have described associations of variants in PNPLA3 with nonalcoholic fatty liver and plasma liver enzyme levels. We investigated the contributions of these variants to liver disease in Mestizo subjects with a history of alcohol dependence. We found that rs738409 in PNPLA3 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted OR= 2.25, P=1.7 x 10(-10); ancestry-adjusted OR=1.79, P=1.9 x 10(-5)).
两项全基因组关联研究(GWAS)描述了 PNPLA3 变异与非酒精性脂肪肝和血浆肝酶水平的关联。我们研究了这些变异在有酒精依赖史的梅斯蒂索人受试者中对肝病的贡献。我们发现 PNPLA3 中的 rs738409 与酒精性肝病和临床明显的酒精性肝硬化强烈相关(未经调整的 OR=2.25,P=1.7×10(-10);适应祖先的 OR=1.79,P=1.9×10(-5))。