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Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis

Abstract:

The IL23R region on chromosome 1 exhibits complex associations with ankylosing spondylitis (AS). We used publicly available epigenomic information and historical genetic association data to identify a potential regulatory element (PRE) in the intergenic region between IL23R and IL12RB2, which includes two single-nucleotide polymorphisms (SNPs) independently associated with AS —rs924080 (P=2×10− 3) and rs11578380 (P=2×10− 4). In luciferase reporter assays, this PRE showed silencer activity (Po...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Oncology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
More from this funder
Funding agency for:
Knight, J
Grant:
20773
More from this funder
Funding agency for:
Knight, J
Grant:
20773
More from this funder
Funding agency for:
Vecellio, M
Grant:
A93081
More from this funder
Funding agency for:
Roberts, A
Knight, J
Grant:
20402
20773
20796
Publisher:
Nature Publishing Group
Journal:
Genes and Immunity More from this journal
Volume:
18
Pages:
105-108
Publication date:
2017-01-01
Acceptance date:
2017-02-21
EISSN:
1476-5470
ISSN:
1466-4879
Pubs id:
pubs:687443
UUID:
uuid:bda0afc1-49e3-4f8a-8642-b42c75267d43
Local pid:
pubs:687443
Deposit date:
2017-03-30

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