TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease

Transmembrane 6 superfamily member 2 (TM6SF2) is located on chromosome 19 (19p12) and encodes for a protein of undetermined function. Genetic studies have reported the association between a nonsynonymous variant in TM6SF2 (E167K, rs58542926) with hepatic triglyceride content and its impact on the ca...

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Autores principales: Luo, Fei, Oldoni, Federico, Das, Avash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870032/
https://www.ncbi.nlm.nih.gov/pubmed/34532996
http://dx.doi.org/10.1002/hep4.1822
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author Luo, Fei
Oldoni, Federico
Das, Avash
author_facet Luo, Fei
Oldoni, Federico
Das, Avash
author_sort Luo, Fei
collection PubMed
description Transmembrane 6 superfamily member 2 (TM6SF2) is located on chromosome 19 (19p12) and encodes for a protein of undetermined function. Genetic studies have reported the association between a nonsynonymous variant in TM6SF2 (E167K, rs58542926) with hepatic triglyceride content and its impact on the cardiovascular system. Clinical and epidemiological studies have confirmed the role of TM6SF2 in the development of nonalcoholic fatty liver disease (NAFLD). Recently, TM6SF2 was also shown to play an important role in promoting hepatic fibrosis and hepatocellular cancer in mouse models. This review aims to capture the physiological role of TM6SF2 in the regulation of lipid metabolism and its involvement in cardiometabolic diseases.
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spelling pubmed-88700322022-02-28 TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease Luo, Fei Oldoni, Federico Das, Avash Hepatol Commun Review Transmembrane 6 superfamily member 2 (TM6SF2) is located on chromosome 19 (19p12) and encodes for a protein of undetermined function. Genetic studies have reported the association between a nonsynonymous variant in TM6SF2 (E167K, rs58542926) with hepatic triglyceride content and its impact on the cardiovascular system. Clinical and epidemiological studies have confirmed the role of TM6SF2 in the development of nonalcoholic fatty liver disease (NAFLD). Recently, TM6SF2 was also shown to play an important role in promoting hepatic fibrosis and hepatocellular cancer in mouse models. This review aims to capture the physiological role of TM6SF2 in the regulation of lipid metabolism and its involvement in cardiometabolic diseases. John Wiley and Sons Inc. 2021-09-16 /pmc/articles/PMC8870032/ /pubmed/34532996 http://dx.doi.org/10.1002/hep4.1822 Text en © 2021 The Authors. Hepatology Communications published by Wiley Periodicals LLC on behalf of American Association for the Study of Liver Diseases. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Review
Luo, Fei
Oldoni, Federico
Das, Avash
TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title_full TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title_fullStr TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title_full_unstemmed TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title_short TM6SF2: A Novel Genetic Player in Nonalcoholic Fatty Liver and Cardiovascular Disease
title_sort tm6sf2: a novel genetic player in nonalcoholic fatty liver and cardiovascular disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870032/
https://www.ncbi.nlm.nih.gov/pubmed/34532996
http://dx.doi.org/10.1002/hep4.1822
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