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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
- Publisher :
- Springer Science and Business Media LLC
-
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
3. Good health
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.doi...........939baabdfd874c0637622f32fea26a66