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ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations

Abstract:

We investigated the proposal that ankylosing spondylitis (AS) is associated with unusual ERAP1 genotypes. ERAP1 haplotypes were constructed for 213 AS cases and 46 rheumatoid arthritis controls using family data. Haplotypes were generated from five common ERAP1 single nucleotide polymorphisms (SNPs)—rs2287987 (M349V), rs30187 (K528R), rs10050860 (D575N), rs17482078 (R725Q), and rs27044 (Q730E). Haplotype frequencies were compared using Q:12 Fisher’s exact test. ERAP1 haplotypes imputed from t...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1073/pnas.1618856114

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Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDORMS
Role:
Author
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Funding agency for:
Roberts, A
Grant:
20402
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Funding agency for:
Appleton, L
Grant:
20796
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Funding agency for:
Vecellio, M
Grant:
A93081
Publisher:
National Academy of Sciences Publisher's website
Journal:
Proceedings of the National Academy of Sciences Journal website
Volume:
114
Issue:
3
Pages:
558–561
Publication date:
2017-01-03
Acceptance date:
2016-11-30
DOI:
EISSN:
1091-6490
Source identifiers:
665385
Pubs id:
pubs:665385
UUID:
uuid:dbf3961a-4652-4beb-af2c-60803d72214f
Local pid:
pubs:665385
Deposit date:
2016-12-13

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