| Title: |
Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors |
| Authors: |
Schwantes-An, Tae-Hwi; Darlay, Rebecca; Mathurin, Philippe; Masson, Steven; Liangpunsakul, Suthat; Mueller, Sebastian; Aithal, Guruprasad P.; Eyer, Florian; Gleeson, Dermot; Thompson, Andrew; Müllhaupt, Beat; Stickel, Felix; Soyka, Michael; Goldman, David; Liang, Tiebing; Lumeng, Lawrence; Pirmohamed, Munir; Nalpas, Bertrand; Jacquet, Jean-Marc; Moirand, Romain; Nahon, Pierre; Naveau, Sylvie; Perney, Pascal; Botwin, Greg; Haber, Paul S.; Seitz, Helmut K.; Day, Christopher P.; Foroud, Tatiana M.; Daly, Ann K.; Cordell, Heather J.; Whitfield, John B.; Morgan, Timothy R.; Seth, Devanshi |
| Contributors: |
CHU Lille; Inserm; Université de Lille |
| Publication Year: |
2020 |
| Collection: |
LillOA (Lille Open Archive - Université de Lille) |
| Description: |
OBJECTIVE: Only a minority of heavy drinkers progress to alcohol-associated cirrhosis (ALC). The aim of this study was to identify common genetic variants that underlie risk for ALC. We analyzed data from 1,128 subjects of European ancestry with ALC and 614 heavy-drinking subjects without known liver disease from Australia, the United States, the United Kingdom, and three countries in Europe. A genome-wide association study (GWAS) was performed, adjusting for principal components and clinical covariates (alcohol use, age, sex, body mass index, and diabetes). We validated our GWAS findings using UK Biobank. We then performed a meta-analysis combining data from our study, the UK Biobank, and a previously published GWAS. Our GWAS found genome-wide significant risk association of rs738409 in patatin-like phospholipase domain containing 3 (PNPLA3) (odds ratio [OR] = 2.19 [G allele], P = 4.93 × 10-17-10-8 CONCLUSIONS: Our genetic findings implicate lipid droplets in the biological pathway(s) underlying ALC. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
Hepatology (Baltimore, Md.); Hepatology; http://hdl.handle.net/20.500.12210/40538 |
| Availability: |
https://hdl.handle.net/20.500.12210/40538 |
| Rights: |
info:eu-repo/semantics/closedAccess |
| Accession Number: |
edsbas.6159EC1A |
| Database: |
BASE |