A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease
2018
Abstract Background Elucidation of the genetic factors underlying
chronic liver diseasemay reveal new therapeutic targets. Methods We used
exome sequencedata and electronic health records from 46,544 participants in the DiscovEHR
human geneticsstudy to identify genetic variants associated with serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Variants that were replicated in three additional cohorts (12,527 persons) were evaluated for association with clinical diagnoses of
chronic liver diseasein DiscovEHR study participants and two independent cohorts (total of 37,173 persons) and with histopathological severity of
liver diseasein 2391
human liversamples. Results A splice variant (rs72613567:TA) in HSD17B13, encoding the hepatic
lipid dropletprotein
hydroxysteroid17-beta dehydrogenase 13, was found to be associated with reduced levels of ALT (P=4.2×10−12) and AST (P=6.2×10−10). Among DiscovEHR study participants, this variant was found to be associated with a re...
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