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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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
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author Abshagen, Kerstin
Berger, Claudia
Dietrich, Arne
Schütz, Tatjana
Wittekind, Christian
Stumvoll, Michael
Blüher, Matthias
Klöting, Nora
author_facet Abshagen, Kerstin
Berger, Claudia
Dietrich, Arne
Schütz, Tatjana
Wittekind, Christian
Stumvoll, Michael
Blüher, Matthias
Klöting, Nora
author_sort Abshagen, Kerstin
collection PubMed
description 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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spelling pubmed-70560462020-03-18 A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease Abshagen, Kerstin Berger, Claudia Dietrich, Arne Schütz, Tatjana Wittekind, Christian Stumvoll, Michael Blüher, Matthias Klöting, Nora Clin Transl Gastroenterol Article 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. Wolters Kluwer 2020-01-09 /pmc/articles/PMC7056046/ /pubmed/31922994 http://dx.doi.org/10.14309/ctg.0000000000000114 Text en © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Article
Abshagen, Kerstin
Berger, Claudia
Dietrich, Arne
Schütz, Tatjana
Wittekind, Christian
Stumvoll, Michael
Blüher, Matthias
Klöting, Nora
A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title_full A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title_fullStr A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title_full_unstemmed A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title_short A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease
title_sort human repin1 gene variant: genetic risk factor for the development of nonalcoholic fatty liver disease
topic Article
url 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
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