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The genetic association of RUNX3 with ankylosing spondylitis can be explained by allele-specific effects on IRF4 recruitment that alter gene expression

Abstract:

Objectives To identify the functional basis for the genetic association of single nucleotide polymorphisms (SNP), upstream of the RUNX3 promoter, with ankylosing spondylitis (AS).

Methods We performed conditional analysis of genetic association data and used ENCODE data on chromatin remodelling and transcription factor (TF) binding sites to identify the primary AS-associated regulatory SNP in the RUNX3 region. The functional effects of this SNP wer...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1136/annrheumdis-2015-207490

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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:
NDORMS
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More from this funder
Name:
Arthritis ResearchUK
Funding agency for:
Roberts, AR
Grant:
20402
More from this funder
Name:
NIHR Oxford Comprehensive Biomedical ResearchCentre
Funding agency for:
Vecellio, M
More from this funder
Name:
National Ankylosing Spondylitis Society
More from this funder
Name:
National Institute for Health Research
Publisher:
BMJ Publishing Group
Journal:
Annals of the Rheumatic Diseases More from this journal
Volume:
75
Issue:
8
Pages:
1534-1540
Publication date:
2015-10-09
Acceptance date:
2015-08-19
DOI:
EISSN:
1468-2060
ISSN:
0003-4967
Language:
English
Pubs id:
pubs:568739
UUID:
uuid:8a9ba3ab-6ee4-4df0-a1ee-1c73687dcb0a
Local pid:
pubs:568739
Source identifiers:
568739
Deposit date:
2015-10-30

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