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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
- Publication Year :
- 2012
- Publisher :
- Springer Science and Business Media LLC, 2012.
-
Abstract
- We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P0.8) with the most associated variant at the locus. We found multiple independent common, low-frequency and rare variant association signals at five loci. Of the 26 independent non-human leukocyte antigen (HLA) signals tagged on the Immunochip, 15 have SNPs in B-lymphoblastoid open chromatin regions in high LD (r2>0.8) with the most associated variant. This study shows how data from dense fine-mapping arrays coupled with functional genomic data can be used to identify candidate causal variants for functional follow-up.
- Subjects :
- TYK2 Kinase
Genotype
Liver Cirrhosis, Biliary
Intracellular Signaling Peptides and Proteins
Chromosome Mapping
Proteins
Sequence Analysis, DNA
Polymorphism, Single Nucleotide
Linkage Disequilibrium
Gene Frequency
Genetic Loci
HLA Antigens
Case-Control Studies
Humans
Regression Analysis
Genetic Predisposition to Disease
Chromosomes, Human, Pair 19
Adaptor Proteins, Signal Transducing
Genome-Wide Association Study
Subjects
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.od.......109..bfc7379d83f8df182612c42ec35c3ea9