作者
Quentin M Anstee, Rebecca Darlay, Simon Cockell, Marica Meroni, Olivier Govaere, Dina Tiniakos, Alastair D Burt, Pierre Bedossa, Jeremy Palmer, Yang-Lin Liu, Guruprasad P Aithal, Michael Allison, Hannele Yki-Järvinen, Michele Vacca, Jean-Francois Dufour, Pietro Invernizzi, Daniele Prati, Mattias Ekstedt, Stergios Kechagias, Sven Francque, Salvatore Petta, Elisabetta Bugianesi, Karine Clement, Vlad Ratziu, Jörn M Schattenberg, Luca Valenti, Christopher P Day, Heather J Cordell, Ann K Daly, EPoS Consortium Investigators
发表日期
2020/9/1
期刊
Journal of hepatology
卷号
73
期号
3
页码范围
505-515
出版商
Elsevier
简介
Background & Aims
Genetic factors associated with non-alcoholic fatty liver disease (NAFLD) remain incompletely understood. To date, most genome-wide association studies (GWASs) have adopted radiologically assessed hepatic triglyceride content as the reference phenotype and so cannot address steatohepatitis or fibrosis. We describe a GWAS encompassing the full spectrum of histologically characterised NAFLD.
Methods
The GWAS involved 1,483 European NAFLD cases and 17,781 genetically matched controls. A replication cohort of 559 NAFLD cases and 945 controls was genotyped to confirm signals showing genome-wide or close to genome-wide significance.
Results
Case-control analysis identified signals showing p values ≤5 × 10−8 at 4 locations (chromosome [chr] 2 GCKR/C2ORF16; chr4 HSD17B13; chr19 TM6SF2; chr22 PNPLA3) together with 2 other signals with p <1 × 10−7 (chr1 near LEPR …
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QM Anstee, R Darlay, S Cockell, M Meroni, O Govaere… - Journal of hepatology, 2020