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

Masahiro Nakajima, Atsushi Takahashi, Ikuyo Kou, Cristina Rodriguez-Fontenla, Juan J. Gomez-Reino, Tatsuya Furuichi, Jin Dai, Akihiro Sudo, Atsumasa Uchida, Naoshi Fukui, Michiaki Kubo, Naoyuki Kamatani, Tatsuhiko Tsunoda, Konstantinos N. Malizos, Aspasia Tsezou, Antonio Gonzalez, Yusuke Nakamura, Shiro Ikegawa

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79 Citations (Scopus)

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.

Original languageEnglish
Article numbere9723
JournalPloS one
Volume5
Issue number3
DOIs
Publication statusPublished - 2010

All Science Journal Classification (ASJC) codes

  • General

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