Objective To investigate the association of transforming growth factor β1 (TGF β1 ) gene C 509T and T869C poly morphisms with hereditary susceptibility and clinical phenotype of childhood asthma. Methods A total of 144 children without asthma (control group) and 110 asthmatic children (asthmatic group) were recruited for the hospital based case control study. Poly morphisms C 509T and T869C were genotyped by the polymerase chain reaction restriction fragment length polymorphism(PCR RFLP) ,and the serum levels of TGF β1 were determined by enzyme linked immunosorbent assay(ELISA). Results The allele T of C 509T in asthmatic group was significantly higher than that in control group(P = 0.006,OR = l. 66,95%CI:1.16 - 2. 37). For the SNPs C 509T,CC genotype frequencies in control group were significantly higher than those in asthmatic group(P＜0. 05) ,and the risk of asthma for the childhood with genotype CC was significantly decreased(P = 0. 004,OR = 0. 46,95%CI:O.27-0.79). There were no significant differences for both allele and genotype frequencies of T869C of TGF β1 gene between the asthmatic group and control group(P＞0. 05). The serum level of TGF β1 was significantly higher in asthmatic patients than that in controls (P＜0.01) and it was significantly higher in C 509T T allele carriers than non C 509T carriers(P＜0. 05). Conclusion T allele of C 509T in TGF β1 may be one of the genetic predisposition genes for developing childhood asthma in Henan. TGF β1 gene T869C locus genetic polymorphism is weakly associated with childhood asthma.%目的 检测转化生长因子β1(TGF-β1)基因C-509T、T869C位点多态性在哮喘儿童中的分布频率,并探讨其与哮喘易感性及临床表型的相关性.方法 以110例哮喘患儿(哮喘组)和144例非哮喘患儿(对照组)为研究对象,应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)技术对C-509T、T869C单核苷酸多态性进行基因分型,同时用ELISA法检测血清TGF-β1水平.结果 哮喘组C-509T位点T等位基因频率显著高于对照组(P=0.006,OR=1.66,95%CI:1.16~2.37),哮喘组CC基因型频率低于对照组(P<0.05),CC基因型携带者患哮喘病的危险性明显降低(P=0.004,OR=0.46,95%CI:0.27~0.79).TGF-β1基因T869C位点基因型及等位基因频率在哮喘组和对照组间分布差异均无统计学意义(P＞0.05);哮喘组患儿血清TGF-β1水平显著高于对照组(P<0.01),C-509T位点携带T等位基因患儿血清TGF-β1水平高于非携带者(P<0.05).结论 TGF-β1基因C-509T位点T等位基因可能是河南儿童哮喘易感基因,T869C位点多态性可能与儿童哮喘发病无相关性.
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