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目的毒性T细胞抗原4(cytotoxic T-lymphocyte antigen-4,CTLA-4)是细胞免疫调控过程中的关键因子,在哮喘发病过程中起重要作用。本研究探讨CTLA-4编码区遗传多态+49 G>A单核苷酸多态与深圳地区儿童哮喘遗传易感性的关系。方法以聚合酶链反应(PCR)和限制性片段长度多态性(restriction fragment length polymorphism,RFLP)分析方法,检测了118例哮喘患儿和160例正常对照者CTLA-4+49 G>A基因型,比较不同基因型与哮喘发病风险的关系。结果 CTLA-4+49 A等位基因频率在哮喘患儿和正常对照中的分布有显著性差异(32.6%vs 24.7%,P=0.039)。CTLA-4三种基因型GG、GA和AA在病例和对照组中的分布有统计学显著性差异(P=0.031,趋势检验),携带CTLA-4 AA或GA基因型者罹患哮喘的风险是GG基因型携带者的1.62倍(95%CI,0.95-2.68,P=0.05)。结论 CTLA-4单核苷酸多态+49 G>A可能是我国儿童哮喘的遗传易感因素。
Objective Toxic cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a key factor in cellular immune regulation and plays an important role in the pathogenesis of asthma. This study was to investigate the relationship between genetic polymorphism of +49 G> A polymorphism in CTLA-4 coding region and susceptibility to childhood asthma in Shenzhen. Methods The CTLA-4 + 49 G> A gene in 118 asthmatic children and 160 healthy controls was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) Type, comparing different genotypes with the risk of asthma. Results There was a significant difference in the distribution of CTLA-4 + 49 A allele in children with asthma and normal controls (32.6% vs 24.7%, P = 0.039). There was a statistically significant difference in the distribution of CTLA-4 genotypes GG, GA and AA between the case and control groups (P = 0.031, trend test), and the risk of developing asthma in CTLA-4 AA or GA genotypes was 1.62-fold (95% CI, 0.95-2.68, P = 0.05) for carriers of the GG genotype. Conclusion CTLA-4 SNP +49 G> A may be a genetic predisposing factor for childhood asthma in China.