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MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C


International Liver Disease Genetics Consortium

Khaled Thabet

Anastasia Asimakopoulos

Maryam Shojaei

Manuel Romero-Gomez

Alessandra Mangia

Thomas Berg

Gregory J. Dore


David Sheridan

Maria Lorena Abate

Elisabetta Bugianesi

Martin Weltman

Lindsay Mollison

Wendy Cheng

Stephen Riordan

Janett Fischer

Ulrich Spengler

Jacob Nattermann

Ahmed Wahid

Angela Rojas

Rose White

Mark W. Douglas

Duncan McLeod

Elizabeth Powell

Christopher Liddle

David Van Der Poorten

Jacob George

Mohammed Eslam


© 2016 The Author(s). Cirrhosis likely shares common pathophysiological pathways despite arising from a variety of liver diseases. A recent GWAS identified rs641738, a polymorphism in the MBOAT7 locus, as being associated with the development of alcoholic cirrhosis. Here we explore the role of this variant on liver inflammation and fibrosis in two cohorts of patients with chronic hepatitis C. In 2,051 patients, rs641738 associated with severe hepatic inflammation and increased risk of fibrosis, as well as fast fibrosis progression. At functional level, rs641738 associated with MBOAT7 transcript and protein levels in liver and blood, and with serum inflammatory, oxidative stress and macrophage activation markers. MBOAT7 was expressed in immune cell subsets, implying a role in hepatic inflammation. We conclude that the MBOAT7 rs641738 polymorphism is a novel risk variant for liver inflammation in hepatitis C, and thereby for liver fibrosis.


International Liver Disease Genetics Consortium, Thabet, K., Asimakopoulos, A., Shojaei, M., Romero-Gomez, M., Mangia, A., …Eslam, M. (2016). MBOAT7 rs641738 increases risk of liver inflammation and transition to fibrosis in chronic hepatitis C. Nature Communications, 7(1), Article 12757.

Journal Article Type Article
Acceptance Date Jul 29, 2016
Online Publication Date Sep 15, 2016
Publication Date Sep 15, 2016
Deposit Date Oct 20, 2016
Publicly Available Date Oct 20, 2016
Journal Nature Communications
Electronic ISSN 2041-1723
Publisher Nature Publishing Group
Peer Reviewed Peer Reviewed
Volume 7
Issue 1
Article Number 12757
Keywords Genetics research; Hepatitis C; Liver fibrosis
Public URL
Publisher URL


ncomms12757.pdf (795 Kb)

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