A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease

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...

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Detalles Bibliográficos
Autores principales: Abshagen, Kerstin, Berger, Claudia, Dietrich, Arne, Schütz, Tatjana, Wittekind, Christian, Stumvoll, Michael, Blüher, Matthias, Klöting, Nora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056046/
https://www.ncbi.nlm.nih.gov/pubmed/31922994
http://dx.doi.org/10.14309/ctg.0000000000000114
Descripción
Sumario: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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