Human, Murine, and In Vitro Studies Identify A Novel Retinol Dehydrogenase, HSD17B13 That Contributes to the Histological Severity of Non-Alcoholic Fatty Liver Disease

Authors

• Y MA
• OV BELIAEVA
• PM BROWN
• K SUMAN
• NY KEDISHVILI
• Y ROTMAN

Abstract

Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in developed countries. A single nucleotide polymorphism (SNP), rs6834314, is associated with liver enzyme levels in the general population. However, the function of the implicated gene HSD17B13 (17-beta hydroxysteroid dehydrogenase 13) and its role in the liver metabolism are yet unclear. The current study aim to elucidate the relationship between rs6834314 and histological and biochemical features of NAFLD, and to uncover whether and how the implicated gene HSD17B13 affects NAFLD progression. In a cohort of 768 subjects with NAFLD, we demonstrate that rs6834314 and other SNPs in HSD17B13 are significantly associated with increased liver fat, but paradoxically show decreased liver injury, inflammation, and liver enzymes levels. A non-synonymous coding SNP, rs62305723, encoding a P260S mutation, is significantly associated with decreased liver inflammation (p

Scientific Focus Area: Cell Biology

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