Nakajima, MasahiroTakahashi, AtsushiKou, IkuyoRodríguez Fontenla, María CristinaGómez-Reino Carnota, Juan JesúsFuruichi, TatsuyaDai, JinSudo, AkihiroUchida, AtsumasaFukui, NaoshiKubo, MichiakiKamatani, NaoyukiTsunoda, TatsuhikoMalizos, Konstantinos N.Tsezou, AspasiaGonzález Martínez-Pedrayo, AntonioNakamura, YusukeIkegawa, Shiro2020-06-062020-06-062010Nakajima 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.0009723http://hdl.handle.net/10347/22836Osteoarthritis (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 OAeng© 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 creditedhttp://creativecommons.org/licenses/by/2.0OsteoarthritisKnee OsteoarthritisGenome-wide identificationHLA Class II/IIIjournal article10.1371/journal.pone.00097231932-6203open access