1] Children's Hospital, Zhejiang University School of Medicine, Hangzhou, PR China [2].
1] Department of Epidemiology and Biostatistics and Key Laboratory of Environment and Health, Ministry of Education & Ministry of Environmental Protection, and State Key Laboratory of Environmental Health (Incubating), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China [2].
Sci Rep. 2014 Feb 28;4:4247. doi: 10.1038/srep04247.
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.
8p22-23-rs2254546 最初是通过全基因组关联研究发现与川崎病(KD)易感性相关的。然而,迄今为止,仅有一项中国的复制研究。为了在另一个中国人群中验证这种关联,在浙江省进行了一项基于医院的病例对照研究,随后进行了整合的荟萃分析,包括 5 项病例对照研究(1958 例病例,5615 例对照)和 503 个三核苷酸传递不平衡测试。在我们的病例对照研究中,与 rs2254546 的 GG 基因型或 GG/GA 基因型相比,GG 基因型与 KD 风险增加显著相关(OR=1.86,95%CI=1.01-3.41,P=0.045;OR=1.83,95%CI=1.01-3.33,P=0.048);然而,在等位基因模型中没有发现显著关联(OR=1.20,95%CI=0.96-1.50,P=0.117)。荟萃分析进一步表明,G 等位基因与 KD 风险增加显著相关,且无异质性证据(OR=1.55,95%CI=1.42-1.70,P<0.001)。总之,rs2254546 多态性可能显著增加 KD 的风险。