Genetic risk factors associated with NAFLD

Abstract

Non-alcoholic fatty liver disease (NAFLD) is estimated to affect 25% of the worldwide population, and is the leading cause of chronic liver disease in developed countries. Genetic research on NAFLD has included heritability studies, candidate gene studies, familial aggregation studies, and genome-wide association studies (GWAS). Next-generation sequencing approaches, such as whole-genome sequencing and whole-exon sequencing, are emerging as the post-GWAS era of genetic research. However, GWAS remains more practical for elucidating the genetic factors related to NAFLD, which is affected by thousands of common genetic variants and does not follow Mendelian inheritance. In the present review, we summarize the current knowledge regarding five GWAS-identified genetic loci that are associated with NAFLD. We also discuss the relationships between NAFLD-predisposing polymorphisms and cardiovascular disease, and potential applications for these identified genetic loci.

Keywords

Genome-wide association study / non-alcoholic fatty liver disease / PNPLA3 / TM6SF2 / GCKR / MBOAT7 / HSD17B13

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