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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 were tested... Expand abstract
Publication status:
In press
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1136/annrheumdis-2015-207490

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Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neurology
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, WTC Human Genetics
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Funding agency for:
Roberts, AR
Arthritis Research UK More from this funder
National Institute for Health Research More from this funder
National Ankylosing Spondylitis Society More from this funder
Publisher:
BMJ Publishing Group Publisher's website
Journal:
Annals of the Rheumatic Diseases Journal website
Publication date:
2015-10-05
DOI:
EISSN:
1468-2060
ISSN:
0003-4967
URN:
uuid:8a9ba3ab-6ee4-4df0-a1ee-1c73687dcb0a
Source identifiers:
568739
Local pid:
pubs:568739

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