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Abshagen, K.* ; Berger, C.* ; Dietrich, A.* ; Schütz, T.* ; Wittekind, C.* ; Stumvoll, M.* ; Blüher, M.* ; Klöting, N.

A human REPIN1 gene variant: Genetic risk factor for the development of nonalcoholic fatty liver disease.

Clin. Transl. Gastroenterol. 11:e00114 (2020)
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OBJECTIVES: We tested the hypothesis that a genetic deletion (Del) variant in the REPIN1 gene is associated with the severity of nonalcoholic fatty liver disease (NAFLD) in humans.METHODS: Sixty-three donors of liver biopsies from individuals with obesity and different degrees of NAFLD and fibrosis were screened for a Del REPIN1 gene variant and liver REPIN1 mRNA expression.RESULTS: In 8 homozygous Del carriers, we found significantly lower NAFLD activity and fibrosis scores compared with 55 wild-type allele carriers.DISCUSSION: A Del variant of REPIN1 may be associated with a lower risk of the development of NAFLD.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Volume; Deficiency; Tissue
ISSN (print) / ISBN 2155-384X
e-ISSN 2155-384X
Quellenangaben Volume: 11, Issue: 1, Pages: , Article Number: e00114 Supplement: ,
Publisher Nature Publishing Group
Publishing Place London
Reviewing status Peer reviewed
Institute(s) Helmholtz Institute for Metabolism, Obesity and Vascular Research (HI-MAG)