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

• Main Authors: 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
• Format: Article
• Language: English
• Published: Public Library of Science (PLoS) 2010-01-01
• Series: PLoS ONE
• Online Access: http://europepmc.org/articles/PMC2841168?pdf=render
• ISSN: 1932-6203

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 approximately 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 = 2.43x10(-8) for rs7775228 and 6.73x10(-8) for rs10947262). Our results suggest that immunologic mechanism is implicated in the etiology of OA.