(2011) Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations. PLoS ONE, Vol.6 (No.8). doi:10.1371/journal.pone.0023371 ISSN 1932-6203.

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Abstract

Osteoarthritis (OA) is the most common form of arthritis and a major cause of disability. This study evaluates the association
in Caucasian populations of two single nucleotide polymorphisms (SNPs) mapping to the Human Leukocyte Antigen (HLA)
region and deriving from a genome wide association scan (GWAS) of knee OA in Japanese populations. The frequencies for
rs10947262 were compared in 36,408 controls and 5,749 knee OA cases from European-descent populations. rs7775228 was
tested in 32,823 controls and 1,837 knee OA cases of European descent. The risk (major) allele at rs10947262 in Caucasian
samples was not significantly associated with an odds ratio (OR) = 1.07 (95%CI 0.94 -1.21; p = 0.28). For rs7775228 the metaanalysis
resulted in OR = 0.94 (95%CI 0.81-1.09; p = 0.42) for the allele associated with risk in the Japanese GWAS. In Japanese
individuals these two SNPs are in strong linkage disequilibrium (LD) (r2 = 0.86) with the HLA class II haplotype DRB1*1502
DQA1*0103 DQB1*0601 (frequency 8%). In Caucasian and Chinese samples, using imputed data, these SNPs appear not to
be in LD with that haplotype (r2,0.07). The rs10947262 and rs7775228 variants are not associated with risk of knee OA in
European descent populations and they do not appear tag the same HLA class II haplotype as they do in Japanese
individuals.

Item Type:	Journal Article
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine
Divisions:	Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Osteoarthritis -- Genetic aspects, Osteoarthritis -- Europe, Osteoarthritis -- Japan, Knee -- Diseases -- Genetic aspects
Journal or Publication Title:	PLoS ONE
Publisher:	Public Library of Science
ISSN:	1932-6203
Official Date:	10 August 2011
Dates:	Date Event 10 August 2011 Published
Volume:	Vol.6
Number:	No.8
DOI:	10.1371/journal.pone.0023371
Status:	Peer Reviewed
Access rights to Published version:	Open Access (Creative Commons)
Date of first compliant deposit:	17 December 2015
Date of first compliant Open Access:	17 December 2015
Funder:	Biotechnology and Biological Sciences Research Council (Great Britain) (BBSRC), Seventh Framework Programme (European Commission) (FP7), Wellcome Trust (London, England), Medical Research Council (Great Britain) (MRC), National Institute for Health Research (Great Britain) (NIHR), Estonian Science Foundation (ESF), Estonia. Sotsiaalministeerium [Ministry of Social Affairs], Arthritis Research Campaign (Organization), AstraZeneca (Firm)
Grant number:	200800 TREAT-OA (FP7), 5308 (ESF), 9.6-4/2035 (MSA), 12.1-5/597 (MSA)

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