New Sequence Variants in HLA Class II/III Region Associated with Susceptibility to Knee Osteoarthritis Identified by Genome-Wide Association Study
AuthorNakajima, M.; Takahashi, A.; Kou, I.; Rodriguez-Fontenla, C.; Gomez-Reino, J. J.; Furuichi, T.; Dai, J.; Sudo, A.; Uchida, A.; Fukui, N.; Kubo, M.; Kamatani, N.; Tsunoda, T.; Malizos, K. N.; Tsezou, A.; Gonzalez, A.; Nakamura, Y.; Ikegawa, S.
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 similar to 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.