目的　探讨CD40基因的SNP位点rs1569723多态性与川崎病(KD)以及临床特点的相关性。方法　采取病例对照研究方法，分别选取179例KD患儿和197例健康儿童作为研究对象。利用PCR-RFLP的方法测定SNP位点多态性分布；超声心动图检测动脉损伤。结果　KD组的SNP位点(rs1569723)的3种基因型(AA、AC、CC)分布与对照组相比，差异有统计学意义(P=0.044)，且A风险等位基因与KD易感性显著相关(OR=1.51，95%CI：1.10-2.07，P=0.012)。SNP位点(rs1569723)3种基因型(AA、AC、CC)，皮疹及淋巴结肿大的发生概率均以AA基因型的发生概率为最高，CC基因型最低，差异均有统计学意义(P=0.041、0.010)。SNP位点(rs1569723)多态性与结膜充血、口腔黏膜病变、手足水肿、冠状动脉损伤无关(P均>0.05)。结论　CD40基因SNP位点(rs1569723)与KD的易感性相关，A等位基因为风险因子；且该SNP位点可能与KD患儿的皮疹以及淋巴结肿大等特征相关。

Objective To investigate the association between nucleotide polymorphisms (rs1569723 in CD40 gene) and clinical characteristics in Kawasaki disease (KD) in Han Chinese children. Methods A case-control study was performed，and 179 children with KD and other 197 normal children served as controls were included. The SNP genotypes were detected using PCR-RFLP, and all data were analyzed by SPSS 19.0. Results It was found that the SNP (rs1569723) was associated with KD (P=0.048), and the frequency of A allele in KD group was higher than that in control group (OR=1.505, 95%CI:1.095-2.070, P=0.012). SNP genotypes were associated with rash and lymphadenopathy (P=0.041, 0.047), but not associated with conjunctival hyperemia, hand-foot edema, oral mucosa lesions, and coronary artery lesion (P=0.688,0.758, 0.557, 0.552). Conclusions Genotypes of SNP (rs1569723) were associated with KD susceptibility, and A-allele is a risk allele. The SNP loci might be associated with rash and lymphadenopathy in KD in Han Chinese.