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Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.

Alimentary pharmacology & therapeutics - 1 Apr 2021

Buch Stephan, Sharma Aneesh, Ryan Eleanor, Datz Christian, Griffiths William J H, Way Michael, Buckley Thomas W M, Ryan John D, Stewart Stephen, Wright Callum, Dongiovanni Paola, Fracanzani Anna, Zwerina Jochen, Merle Uta, Weiss Karl Heinz, Aigner Elmar, Krones Elisabeth, Dejaco Christian, Fischer Janett, Berg Thomas, Valenti Luca, Zoller Heinz, McQuillin Andrew, Hampe Jochen, Stickel Felix, Morgan Marsha Y

Abstract excerpt

BACKGROUND: Cirrhosis develops in <10% of individuals homozygous for the C282Y variant in the homeostatic iron regulator (HFE) gene. Carriage of PCSK7:rs236918 is associated with an increased risk of cirrhosis in this population. AIM: To determine if genetic variants significantly associated with the risk of alcohol- and NAFLD-related cirrhosis also modulate the cirrhosis risk in C282Y homozygotes. METHODS:...

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PMID: 33565643
DOI: 10.1111/apt.16252

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Variants in PCSK7, PNPLA3 and TM6SF2 are risk factors for the development of cirrhosis in hereditary haemochromatosis.PMID 33565643Read ↗

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.Semantic proximity Read ↗

Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.Semantic proximity Read ↗

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Genetic variants in PNPLA3 and TM6SF2 predispose to the development of hepatocellular carcinoma in individuals with alcohol-related cirrhosis.Semantic proximity Read ↗

Genetic Variants in Liver Cirrhosis: A Review of Classification, Mechanisms, and Clinical Relevance CirrhosisSemantic proximity Read ↗

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