GeneSet Information

Tier I GS268806 • GWAS Catalog Data for biliary liver cirrhosis in 1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)

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 Primary biliary cirrhosis. The EFO term biliary 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: biliary liver cirrhosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

GF Mells, JA Floyd, KI Morley, HJ Cordell, CS Franklin, SY Shin, MA Heneghan, JM Neuberger, PT Donaldson, DB Day, SJ Ducker, AW Muriithi, EF Wheater, CJ Hammond, MF Dawwas, DE Jones, L Peltonen, GJ Alexander, RN Sandford, CA Anderson

TITLE:

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

JOURNAL:

Nature genetics Mar 2011, Vol 43, pp. 329-32

ABSTRACT:

In addition to the HLA locus, six genetic risk factors for primary biliary cirrhosis (PBC) have been identified in recent genome-wide association studies (GWAS). To identify additional loci, we carried out a GWAS using 1,840 cases from the UK PBC Consortium and 5,163 UK population controls as part of the Wellcome Trust Case Control Consortium 3 (WTCCC3). We followed up 28 loci in an additional UK cohort of 620 PBC cases and 2,514 population controls. We identified 12 new susceptibility loci (at a genome-wide significance level of P < 5 × 10⁻⁸) and replicated all previously associated loci. We identified three further new loci in a meta-analysis of data from our study and previously published GWAS results. New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC. PUBMED: 21399635
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Annotation Information

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biliary liver cirrhosis (EFO:0004267)

Gene List • 34 Genes

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