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目的:探讨细胞毒T淋巴细胞相关抗原4(CTLA-4)基因多态性与儿童变应性鼻炎(AR)合并哮喘疾病易感性的关系。方法:单纯AR组302例,AR合并哮喘组288例,对照组327例,收集外周血标本提取DNA后进行病例对照研究。采用限制性片段长度多态性聚合酶链反应和直接测序法对CTLA-4基因的6个多态性位点(rs3087243,rs11571302,rs11571315,rs231725,rs35219727,rs4553808)进行基因分型。结果:各组在各个位点基因分型均符合哈迪温伯格平衡。位点rs3087243和rs231725AA基因型及A等位基因频率存在统计学差异。rs3087243AA基因型及A等位基因频率仅在AR合并哮喘组明显升高,rs231725AA基因型及A等位基因频率的改变在单纯AR组及AR合并哮喘组均有意义。结论:儿童AR合并哮喘的易感性与CTLA-4基因多态性有明显相关性,且rs3087243和rs231725位点单核苷酸多态性与儿童AR合并哮喘的易感性密切相关。
Objective: To investigate the relationship between cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene polymorphism and childhood allergic rhinitis (AR) with asthma susceptibility. Methods: 302 patients in AR group, 288 patients in AR combined asthma group and 327 patients in control group were collected and DNA samples were collected from peripheral blood for case control study. Six polymorphic sites of CTLA-4 gene (rs3087243, rs11571302, rs11571315, rs231725, rs35219727, rs4553808) were genotyped by restriction fragment length polymorphism (PCR) and direct sequencing. Results: The genotypes of each group were in accordance with Hardin Weinbalance. Rs3087243 and rs231725AA genotypes and A allele frequencies were statistically different. rs3087243AA genotype and A allele frequencies were significantly higher in AR combined with asthma group. The changes of rs231725AA genotype and A allele were significant in AR group and AR combined with asthma group. Conclusion: Susceptibility of children with AR complicated with asthma is significantly related to the polymorphism of CTLA-4 gene, and SNPs rs3087243 and rs231725 are closely related to the susceptibility of children with AR complicated with asthma.