Electronic health record-based genome-wide meta-analysis provides insights on the genetic architecture of non-alcoholic fatty liver disease.

Ghodsian, Nooshin; Abner, Erik; Emdin, Connor A; Gobeil, Émilie; Taba, Nele; Haas, Mary E; Perrot, Nicolas; Manikpurage, Hasanga D et al. · Cell Rep Med · 2021

meta_analysis · Level I

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Abstract

Non-alcoholic fatty liver disease (NAFLD) is a complex disease linked to several chronic diseases. We aimed at identifying genetic variants associated with NAFLD and evaluating their functional consequences. We performed a genome-wide meta-analysis of 4 cohorts of electronic health record-documented NAFLD in participants of European ancestry (8,434 cases and 770,180 controls). We identify 5 potential susceptibility loci for NAFLD (located at or near <i>GCKR</i>, <i>TR1B1</i>, <i>MAU2</i>/<i>TM6SF2</i>, <i>APOE</i>, and <i>PNPLA3</i>). We also report a potentially causal effect of lower <i>LPL</i> expression in adipose tissue on NAFLD susceptibility and an effect of the <i>FTO</i> genotype on NAFLD. Positive genetic correlations between NAFLD and cardiometabolic diseases and risk factors such as body fat accumulation/distribution, lipoprotein-lipid levels, insulin resistance, and coronary artery disease and negative genetic correlations with parental lifespan, socio-economic status, and acetoacetate levels are observed. This large GWAS meta-analysis reveals insights into the genetic architecture of NAFLD.

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