New sequence variants in HLA Class II/III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study

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Abstract

Osteoarthritis (OA) is a common disease that has a definite genetic component. Only a few OA susceptibility genes that have definite functional evidence and replication of association have been reported, however. Through a genome-wide association study and a replication using a total of ∼4,800 Japanese subjects, we identified two single nucleotide polymorphisms (SNPs) (rs7775228 and rs10947262) associated with susceptibility to knee OA. The two SNPs were in a region containing HLA class II/III genes and their association reached genome-wide significance (combined P = 2.43×10−8 for rs7775228 and 6.73×10−8 for rs10947262). Our results suggest that immunologic mechanism is implicated in the etiology of OA

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Nakajima M, Takahashi A, Kou I, Rodriguez-Fontenla C, Gomez-Reino JJ, Furuichi T, et al. (2010) New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study. PLoS ONE 5(3): e9723. https://doi.org/10.1371/journal.pone.0009723

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The Japanese study is supported by the Leading Project for Personalized Medicine in the Ministry of Education, Culture, Sports, Science and Technology. The European study is supported by Instituto de Salud Carlos III from the Spanish Health Ministry with participation of FEDER (Fondo Europeo para el Desarrollo Regional), the Foundation Mutua Madrile (Madrid)

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© 2010 Nakajima et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited