CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis
Authors
GJ Alexander
MA Almarri
+17 more
CA Anderson
JC Barrett
AJ Bathgate
A Burroughs
HJ Cordell
MH Davies
DB Day
PT Donaldson
SJ Ducker
DJ Gaffney
MA Heneghan
DE Jones
L Jostins
JZ Liu
GF Mells
JM Neuberger
RN Sandford
Publication date
1 October 2012
Publisher
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 P 0.8) 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 (r > 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. © 2012 Nature America, Inc. All rights reserved
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
UCL Discovery
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.ucl.ac.uk.OAI2:137...
Last time updated on 10/09/2013