上海地区汉族川崎病患者CD40基因单核苷酸多态性分析

Analysis of single nucleotide polymorphisms of CD40 gene of Han people with Kawasaki disease in Shanghai

目的探讨CD40基因c.4833 C>T和c.5077 T>C多态性与川崎病发生的关系,探索川崎病发生的可能分子机制。方法选取81例诊断明确的汉族川崎病患儿(病例组)为研究对象,以96名汉族健康儿童作为对照组。PCR扩增CD40基因的启动子及全部外显子序列,所有扩增片段均进行双向测序。将所测CD40基因序列与Gen Bank中的已知序列(NG007279.1)通过BLAST程序对比,检出可能存在的单核苷酸多态性(SNP)。结果在病例组和对照组中检出CD40基因启动子序列上2个已报道SNP,分别为rs752118和rs1883832,且两组2个SNP的等位基因频率的差异均无统计学意义(P=0.362,P=0.769)。结论 CD40基因启动子序列上的2个SNP对川崎病的发生及预后无明显影响,可视为中国汉族人群CD40基因的正常SNP。

Objective To investigate the relationship of the incidence of Kawasaki disease and c. 4833 C 〉T and c. 5077 T〉 C polymorphisms of CD40 gene and to explore the possible molecular biological pathogenesis of Kawasaki disease. Methods Eighty-one children who were diagnosed with Kawasaki disease were selected as study subjects（ case group） and 96 healthy children were chosen as controls（ control group）. PCR was adopted to amplify promoters and all exons of CD40 gene. Paired-end sequencing was performed for all amplified fragments. Sequenced CD40 gene was compared with the known sequence in GenB ank（ NG 007279. 1） by the BLAST program and possible single nucleotide polymorphisms（ SNP） were screened. Results Two reported SNP in the sequence of promoters of CD40 gene, i. e. rs752118 and rs1883832, were detected in both case group and control group. The differences of frequencies of alleles of two SNPs between two groups were not statistically significant（ P = 0. 362, P = 0. 769）.Conclusion Two SNPs in the sequence of promoters of CD40 gene have no significant effect on the incidence and prognosis of Kawasaki disease and can be regarded as normal SNPs of Chinese Han people.