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Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
- Publication Year :
- 2020
- Publisher :
- Springer Science and Business Media LLC, 2020.
-
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.
- Subjects :
- Male
Receptors, CXCR5
Death Domain Receptor Signaling Adaptor Proteins
Receptors, Interleukin-7
Monosaccharide Transport Proteins
Liver Cirrhosis, Biliary
NF-kappa B p50 Subunit
Adaptive Immunity
STAT4 Transcription Factor
Polymorphism, Single Nucleotide
Immunity, Innate
Linkage Disequilibrium
Cohort Studies
Receptors, Tumor Necrosis Factor, Type I
Risk Factors
Case-Control Studies
Databases, Genetic
B7-1 Antigen
Guanine Nucleotide Exchange Factors
Humans
Female
Genetic Predisposition to Disease
Lectins, C-Type
Genome-Wide Association Study
Subjects
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi...........ba032a48afbe15e1faa558cc6c6fdb73
- Full Text :
- https://doi.org/10.17863/cam.62237