Authors
Mohammed Eslam, Alessandra Mangia, Thomas Berg, Henry Lik Yuen Chan, William L Irving, Gregory J Dore, Maria Lorena Abate, Elisabetta Bugianesi, Leon A Adams, Mustafa AM Najim, Luca Miele, Martin Weltman, Lindsay Mollison, Wendy Cheng, Stephen Riordan, Janett Fischer, Manuel Romero‐Gomez, Ulrich Spengler, Jacob Nattermann, Antony Rahme, David Sheridan, David R Booth, Duncan McLeod, Elizabeth Powell, Christopher Liddle, Mark W Douglas, David van der Poorten, Jacob George, International Liver Disease Genetics Consortium, Rose White, Angela Rojas, Rocio Gallego‐Duran, Margaret Bassendine, Vincent WS Wong, Chiara Rosso, Lavinia Mezzabotta, Reynold Leung, Barbara Malik, Gail Matthews, Tanya Applegate, Jason Grebely, Vincenzo Fragomeli, Julie R Jonsson, Rosanna Santaro
Publication date
2016/7
Journal
Hepatology
Volume
64
Issue
1
Pages
34-46
Description
A genome‐wide exome association study has identified the transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 variant encoding an E167K substitution as a genetic determinant of hepatic steatosis in nonalcoholic fatty liver disease (NAFLD). The roles of this variant across a spectrum of liver diseases and pathologies and on serum lipids comparing viral hepatitis to NAFLD and viral load in chronic viral hepatitis, as well as its intrahepatic molecular signature, have not been well characterized. We undertook detailed analyses in 3260 subjects with viral and nonviral liver diseases and in healthy controls. Serum inflammatory markers and hepatic expression of TM6SF2 and genes regulating lipid metabolism were assessed in a subset with chronic hepatitis C (CHC). The rs58542926 T allele was more prevalent in 502 NAFLD patients than controls (P = 0.02) but not different in cohorts with CHC (n = 2023 …
Scholar articles
M Eslam, A Mangia, T Berg, HLY Chan, WL Irving… - Hepatology, 2016