8p22–23-rs2254546 as a Susceptibility Locus for Kawasaki Disease: a Case-control Study and a Meta-analysis

8p22–23-rs2254546 was firstly discovered to be associated with Kawasaki disease (KD) susceptibility by a genome-wide association study. However, only one Chinese replication study has been performed so far. To verify this association in another Chinese population, a hospital-based case-control study in Zhejiang province was conducted followed by an integrated meta-analysis, comprising five case-control studies of 1958 cases, 5615 controls and four transmission disequilibrium tests of 503 trios. In our case-control study, significant associations were observed between GG genotype or GG/GA genotypes of rs2254546 and increased KD risk (OR = 1.86, 95% CI = 1.01–3.41, P = 0.045; OR = 1.83, 95% CI = 1.01–3.33, P = 0.048), compared with AA genotype; however, no significant association was found in allelic model (OR = 1.20, 95% CI = 0.96–1.50, P = 0.117). The meta-analysis further revealed that the G allele was significantly associated with the increased KD risk without evidence of heterogeneity (OR = 1.55, 95% CI = 1.42–1.70, P < 0.001). In conclusion, rs2254546 polymorphism might significantly contribute to the risk of KD.