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A human REPIN1 gene variant: Genetic risk factor for the development of nonalcoholic fatty liver disease.
Clin. Transl. Gastroenterol. 11:e00114 (2020)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Volume; Deficiency; Tissue
ISSN (print) / ISBN
2155-384X
e-ISSN
2155-384X
Zeitschrift
Clinical and translational gastroenterology
Quellenangaben
Band: 11,
Heft: 1,
Artikelnummer: e00114
Verlag
Nature Publishing Group
Verlagsort
London
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Helmholtz Institute for Metabolism, Obesity and Vascular Research (HI-MAG)