CD40基因多态性与川崎病及其冠状动脉损伤的相关性研究

目的 探讨CD40 基因两个SNP 位点rs4810485 和rs1535045 的多态性与我国中部地区儿童川崎病（KD）以及动脉损伤遗传易感性的关系。方法 采取病例对照研究方法，分别选取184 例KD 患儿和206例正常体检儿童作为研究对象。利用PCR-RFLP 的方法测定两个SNP 位点多态性分布。结果 KD 患儿SNP位点rs4810485 的基因型（GG、GC、CC）频率及等位基因频率与正常对照组相比差异均无统计学意义（均P>0.05）；SNP 位点rs1535045 基因型（TT、TC、CC）与对照相比差异有统计学意义（P=0.011），T 等位基因为风险因子（OR=1.592，95%CI：1.182~2.144，P=0.004）。患者中两个SNP 位点多态性均不与冠状动脉损伤相关（均P>0.05）。结论 CD40 基因SNP 位点rs4810485 与KD 无相关性， rs1535045 与KD 的易感性相关。

Association between gene polymorphism of CD40 gene and coronary artery lesion in Kawasaki disease

Objective To study the association between two single nucleotide polymorphisms (rs4810485 and rs1535045 in CD40 gene) and Kawasaki disease (KD) in Han Chinese children. Methods A case-control study was performed on 184 children with KD and 206 normal controls. The polymorphisms of two SNPs in CD40 gene were detected using PCR-RFLP. Results There were no significant differences in the genotype distribution and allele frequency of SNP rs4810485 in CD40 gene between the KD and normal groups (P>0.05). The genotype distribution of SNP rs1535045 in CD40 gene in the KD group was significantly different from the control group (P<0.05). T allele of SNP rs1535045 was shown as a risk factor for development of KD (OR=1.592, 95%CI: 1.182-2.144, P=0.004). There were no association between the polymorphisms of the two SNPs and coronary artery lesions (P>0.05). Conclusions SNP rs1535045 may be associated with the development of KD in Han Chinese children, while SNP rs4810485 may not.