CD40基因多态性与川崎病及其冠状动脉损伤的相关性研究

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

摘要:

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。

Abstract:

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.