The University of Southampton
University of Southampton Institutional Repository

Large scale replication study of the association between HLA II/BTNL2 variants and osteoarthritis of the knee in European-descent populations

Large scale replication study of the association between HLA II/BTNL2 variants and osteoarthritis of the knee in European-descent populations
Large scale replication study of the association between HLA II/BTNL2 variants and osteoarthritis of the knee in European-descent populations
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 meta-analysis 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.
1932-6203
e23371
Valdes, A.M.
9a213e37-af13-4e57-bb0f-9ff0a43dbffc
Styrkarsdottir, U.
c3cd6001-7bfd-4c9b-b051-d23125f4f81d
Doherty, M.
3ccd8b47-e119-4f38-b813-08e9036a9ff3
Morris, D.L.
6acc2a1d-adc4-41e2-a433-dac0b5b3a8be
Mangino, M.
f129f0c3-44c5-4c8e-a348-7c19dbd83586
Tamm, A.
e7cea561-7e1a-4729-a62d-d17c65515fcd
Wheeler, M.
cca02688-13c2-477f-ad2d-12e39e8bac3e
Maciewicz, R.A.
65decc35-5b04-4751-aeb3-64ab1934ba4f
Zhang, W.
1c80d4f2-4ba8-41f6-85a6-a76a4d65dc9b
Muir, K.R.
639993b9-774f-4f73-a253-458d927c1f6a
Dennison, E.M.
ee647287-edb4-4392-8361-e59fd505b1d1
Hart, D.J.
00e78191-ce14-4b5f-a720-9f1bb51b2b62
Metrustry, S.
e0cac118-a799-49ab-b1d1-28c06e11c425
Jonsdottir, I.
2a82fb64-82a1-4319-a0b5-0d08ecf4e9b5
Jonsson, G.F.
e887bdbf-e74d-4cda-ad74-97a628d298fd
Ingvarsson, T.
2a74a7da-dbc6-418d-a29b-04335df96ef8
Cooper, C.
e05f5612-b493-4273-9b71-9e0ce32bdad6
Vyse, T.J.
8e5f6eb1-c6e4-4607-85b9-dfd42caf70a2
Spector, T.D.
87d1f285-3f22-4c9a-b006-d65cfda6d3e0
Stefansson, K.
07f4efc2-1dc0-4b7a-960d-4f8f08a8bd2b
Arden, N.K.
23af958d-835c-4d79-be54-4bbe4c68077f
Valdes, A.M.
9a213e37-af13-4e57-bb0f-9ff0a43dbffc
Styrkarsdottir, U.
c3cd6001-7bfd-4c9b-b051-d23125f4f81d
Doherty, M.
3ccd8b47-e119-4f38-b813-08e9036a9ff3
Morris, D.L.
6acc2a1d-adc4-41e2-a433-dac0b5b3a8be
Mangino, M.
f129f0c3-44c5-4c8e-a348-7c19dbd83586
Tamm, A.
e7cea561-7e1a-4729-a62d-d17c65515fcd
Wheeler, M.
cca02688-13c2-477f-ad2d-12e39e8bac3e
Maciewicz, R.A.
65decc35-5b04-4751-aeb3-64ab1934ba4f
Zhang, W.
1c80d4f2-4ba8-41f6-85a6-a76a4d65dc9b
Muir, K.R.
639993b9-774f-4f73-a253-458d927c1f6a
Dennison, E.M.
ee647287-edb4-4392-8361-e59fd505b1d1
Hart, D.J.
00e78191-ce14-4b5f-a720-9f1bb51b2b62
Metrustry, S.
e0cac118-a799-49ab-b1d1-28c06e11c425
Jonsdottir, I.
2a82fb64-82a1-4319-a0b5-0d08ecf4e9b5
Jonsson, G.F.
e887bdbf-e74d-4cda-ad74-97a628d298fd
Ingvarsson, T.
2a74a7da-dbc6-418d-a29b-04335df96ef8
Cooper, C.
e05f5612-b493-4273-9b71-9e0ce32bdad6
Vyse, T.J.
8e5f6eb1-c6e4-4607-85b9-dfd42caf70a2
Spector, T.D.
87d1f285-3f22-4c9a-b006-d65cfda6d3e0
Stefansson, K.
07f4efc2-1dc0-4b7a-960d-4f8f08a8bd2b
Arden, N.K.
23af958d-835c-4d79-be54-4bbe4c68077f

Valdes, A.M., Styrkarsdottir, U., Doherty, M., Morris, D.L., Mangino, M., Tamm, A., Wheeler, M., Maciewicz, R.A., Zhang, W., Muir, K.R., Dennison, E.M., Hart, D.J., Metrustry, S., Jonsdottir, I., Jonsson, G.F., Ingvarsson, T., Cooper, C., Vyse, T.J., Spector, T.D., Stefansson, K. and Arden, N.K. (2011) Large scale replication study of the association between HLA II/BTNL2 variants and osteoarthritis of the knee in European-descent populations. PLoS ONE, 6 (8), e23371. (doi:10.1371/journal.pone.0023371). (PMID:21853121)

Record type: Article

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 meta-analysis 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.

Other
fetchObject.action_uri=info_doi%2F10.1371%2Fjournal.pone.0023371&representation=PDF - Version of Record
Available under License Other.
Download (225kB)

More information

Published date: 10 August 2011
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 198027
URI: http://eprints.soton.ac.uk/id/eprint/198027
ISSN: 1932-6203
PURE UUID: 4dcb489f-c2bd-4c6f-a49c-83e977030030
ORCID for E.M. Dennison: ORCID iD orcid.org/0000-0002-3048-4961
ORCID for C. Cooper: ORCID iD orcid.org/0000-0003-3510-0709

Catalogue record

Date deposited: 29 Sep 2011 13:58
Last modified: 18 Feb 2021 16:48

Export record

Altmetrics

Contributors

Author: A.M. Valdes
Author: U. Styrkarsdottir
Author: M. Doherty
Author: D.L. Morris
Author: M. Mangino
Author: A. Tamm
Author: M. Wheeler
Author: R.A. Maciewicz
Author: W. Zhang
Author: K.R. Muir
Author: E.M. Dennison ORCID iD
Author: D.J. Hart
Author: S. Metrustry
Author: I. Jonsdottir
Author: G.F. Jonsson
Author: T. Ingvarsson
Author: C. Cooper ORCID iD
Author: T.J. Vyse
Author: T.D. Spector
Author: K. Stefansson
Author: N.K. Arden

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×