Article
Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.
Nature genetics - 1 Apr 2014
Kozlitina Julia, Smagris Eriks, Stender Stefan, Nordestgaard Børge G, Zhou Heather H, Tybjærg-Hansen Anne, Vogt Thomas F, Hobbs Helen H, Cohen Jonathan C
Abstract excerpt
Nonalcoholic fatty liver disease (NAFLD) is the most common form of liver disease. To elucidate the molecular basis of NAFLD, we performed an exome-wide association study of liver fat content. Three variants were associated with higher liver fat levels at the exome-wide significance level of 3.6 × 10(-7): two in PNPLA3, an established locus for NAFLD, and one (encoding p.Glu167Lys) in TM6SF2, a gene of unknown...
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