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Type: Journal article
Title: TM6SF2 rs58542926 influences hepatic fibrosis progression in patients with non-alcoholic fatty liver disease
Author: Liu, Y.
Reeves, H.
Burt, A.
Tiniakos, D.
McPherson, S.
Leathart, J.
Allison, M.
Alexander, G.
Piguet, A.
Anty, R.
Donaldson, P.
Aithal, G.
Francque, S.
Van Gaal, L.
Clement, K.
Ratziu, V.
Dufour, J.
Day, C.
Daly, A.
Anstee, Q.
Citation: Nature Communications, 2014; 5(1):4309-1-4309-6
Publisher: Nature Publishing Group
Issue Date: 2014
ISSN: 2041-1723
Statement of
Yang-Lin Liu, Helen L. Reeves, Alastair D. Burt, Dina Tiniakos, Stuart McPherson, Julian B. S. Leathart, Michael E. D. Allison, Graeme J. Alexander, Anne-Christine Piguet, Rodolphe Anty, Peter Donaldson, Guruprasad P. Aithal, Sven Francque, Luc Van Gaal, Karine Clement, Vlad Ratziu, Jean-Francois Dufour, Christopher P. Day, Ann K. Daly, Quentin M. Anstee
Abstract: Non-alcoholic fatty liver disease (NAFLD) is an increasingly common condition, strongly associated with the metabolic syndrome, that can lead to progressive hepatic fibrosis, cirrhosis and hepatic failure. Subtle inter-patient genetic variation and environmental factors combine to determine variation in disease progression. A common non-synonymous polymorphism in TM6SF2 (rs58542926 c.449 C>T, p.Glu167Lys) was recently associated with increased hepatic triglyceride content, but whether this variant promotes clinically relevant hepatic fibrosis is unknown. Here we confirm that TM6SF2 minor allele carriage is associated with NAFLD and is causally related to a previously reported chromosome 19 GWAS signal that was ascribed to the gene NCAN. Furthermore, using two histologically characterized cohorts encompassing steatosis, steatohepatitis, fibrosis and cirrhosis (combined n=1,074), we demonstrate a new association, independent of potential confounding factors (age, BMI, type 2 diabetes mellitus and PNPLA3 rs738409 genotype), with advanced hepatic fibrosis/cirrhosis. These findings establish new and important clinical relevance to TM6SF2 in NAFLD.
Keywords: Liver
Liver Cirrhosis
Disease Progression
Genetic Predisposition to Disease
Lectins, C-Type
Membrane Proteins
Nerve Tissue Proteins
Cohort Studies
Polymorphism, Single Nucleotide
Middle Aged
Chondroitin Sulfate Proteoglycans
Non-alcoholic Fatty Liver Disease
Rights: © 2014 Macmillan Publishers Ltd. All rights reserved. This article has been distributed under a Creative Commons CC-BY license (please see the article itself for the license version number). You may reuse this material without obtaining permission from Nature Publishing Group, providing that the author and the original source of publication are fully acknowledged, as per the terms of the license. For license terms, please see
DOI: 10.1038/ncomms5309
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