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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Abstract:

Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ng.3745

Authors


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Role:
Author
ORCID:
0000-0001-8652-6318
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Division:
MSD
Department:
NDORMS
Sub department:
Kennedy Institute for Rheumatology
Oxford college:
Christ Church
Role:
Author
ORCID:
0000-0002-2475-3969
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Department of Health More from this funder
Publisher:
Nature Research Publisher's website
Journal:
Nature genetics Journal website
Volume:
49
Issue:
2
Pages:
269-273
Place of publication:
United States
Publication date:
2016-12-19
Acceptance date:
2016-11-18
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Pmid:
27992413
Language:
English
Keywords:
Pubs id:
667207
Local pid:
pubs:667207
Deposit date:
2020-07-06

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