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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
- Source :
- Nature genetics
- Publication Year :
- 2011
-
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 P5 × 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.
- Subjects :
- Male
Receptors, CXCR5
Linkage disequilibrium
Death Domain Receptor Signaling Adaptor Proteins
Cirrhosis
Monosaccharide Transport Proteins
Locus (genetics)
Genome-wide association study
Biology
Adaptive Immunity
Genome
Polymorphism, Single Nucleotide
Article
Linkage Disequilibrium
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Primary biliary cirrhosis
Risk Factors
Databases, Genetic
Genetics
medicine
Guanine Nucleotide Exchange Factors
Humans
Genetic Predisposition to Disease
Lectins, C-Type
030304 developmental biology
0303 health sciences
Receptors, Interleukin-7
Liver Cirrhosis, Biliary
Case-control study
NF-kappa B p50 Subunit
STAT4 Transcription Factor
medicine.disease
Immunity, Innate
3. Good health
Receptors, Tumor Necrosis Factor, Type I
Case-Control Studies
Immunology
Susceptibility locus
B7-1 Antigen
030211 gastroenterology & hepatology
Female
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 15461718 and 10614036
- Volume :
- 43
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Nature genetics
- Accession number :
- edsair.doi.dedup.....7643778caaa499011a3c2015cba6572c