DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cirrhosis (alcohol related). The EFO term alcoholic liver cirrhosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: alcoholic liver cirrhosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2020-05-06

SPECIES:

AUTHORS:

S Buch, F Stickel, E Trépo, M Way, A Herrmann, HD Nischalke, M Brosch, J Rosendahl, T Berg, M Ridinger, M Rietschel, A McQuillin, J Frank, F Kiefer, S Schreiber, W Lieb, M Soyka, N Semmo, E Aigner, C Datz, R Schmelz, S Brückner, S Zeissig, AM Stephan, N Wodarz, J Devière, N Clumeck, C Sarrazin, F Lammert, T Gustot, P Deltenre, H Völzke, MM Lerch, J Mayerle, F Eyer, C Schafmayer, S Cichon, MM Nöthen, M Nothnagel, D Ellinghaus, K Huse, A Franke, S Zopf, C Hellerbrand, C Moreno, D Franchimont, MY Morgan, J Hampe

TITLE:

A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

JOURNAL:

Nature genetics Dec 2015, Vol 47, pp. 1443-8

ABSTRACT:

Alcohol misuse is the leading cause of cirrhosis and the second most common indication for liver transplantation in the Western world. We performed a genome-wide association study for alcohol-related cirrhosis in individuals of European descent (712 cases and 1,426 controls) with subsequent validation in two independent European cohorts (1,148 cases and 922 controls). We identified variants in the MBOAT7 (P = 1.03 × 10(-9)) and TM6SF2 (P = 7.89 × 10(-10)) genes as new risk loci and confirmed rs738409 in PNPLA3 as an important risk locus for alcohol-related cirrhosis (P = 1.54 × 10(-48)) at a genome-wide level of significance. These three loci have a role in lipid processing, suggesting that lipid turnover is important in the pathogenesis of alcohol-related cirrhosis. PUBMED: 26482880
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