支气管哮喘患者亚甲基四氢叶酸还原酶基因的多态性研究

Methylenetetrahydrofolate reducatase polymorphism and asthma

目的 了解亚甲基四氢叶酸还原酶C/T多态性与支气管哮喘 (简称哮喘 )发生、发展的关系。方法 用聚合酶链反应和限制性片段长度多态性分析法对 43 3例哮喘患者和 12 49例对照组患者进行MTHFR基因型分析。结果 MTHFR三种基因型的频率分别为 :CC占 40 2 7% ,CT占48 44 % ,TT占 11 2 9% ,T等位基因的频率为 3 5 5 1%。过敏性哮喘患者中TT基因型的频率与对照组比较 ,差异有显著性 (P =0 0 2 6) ,与CC和CT基因型比较 ,其OR值为 1 61,95 %可信区间 (95 %CI)为1 0 6～ 2 47。

Objective To evaluate the association between the methylenetetrahydrofolate reductase C/T polymorphism and the prevalence and course of asthma Method Genotypes were determined in 433 asthmatic patients and 1 249 healthy subjects by the polymerase chain reaction and restriction fragment length polymorphism method Results The frequencies of the three genotypes were 40 27% for CC, 48 44% for CT, 11 29% for TT and the frequency of allelic T was 35 51% in controls The frequency of TT genotype in atopic asthmatic patients was significantly higher than that in controls ( P =0 026) The OR for the TT genotype compared with all CC and CT genotypes was 1 61 (95%CI 1 06～2 47) Conclusion These results imply that homozygosity for this common mutation significantly increases the risk of atopic asthma