蒙古族儿童哮喘与TIM-1基因启动子区-416G>C,-1454G>A位点多态性和外显子4插入/缺失变异的相关性研究

Relationship between TIM-1 Gene Promoter Region -416G>C,-1454G>A,Exon 4(157insMTTTVP)Polymorphisms and Mongolian Nationality Childhood with Asthma

目的探讨内蒙古地区蒙古族儿童哮喘免疫调节基因T细胞免疫球蛋白黏蛋白域1(TIM-1)启动子区-416G>C,-1454G>A和外显子4插入/缺失变异与儿童哮喘的相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCRRFLP)检测方法,分别对蒙古族哮喘组儿童129例和对照组儿童130例检测Tim-1启动子区-416G>C,-1454G>A两个多态性位点和外显子4插入/缺失变异,进行病例对照研究分析。利用SPSS17.0对基因型/等位基因等计数资料采用Fisherχ~2检验分析统计学差异。结果哮喘组-416G>C位点基因多态性的C等位基因明显低于对照组,差异有统计学意义(OR=1.682,95%CI 1.146～2.268,P<0.05)。哮喘组TIM-1启动子区-1454G>A位点基因多态性与对照组比较(χ~2=0.561,P=0.755)差异均无统计学意义;哮喘组外显子4插入/缺失变异与对照组比较,差异均无统计学意义(χ~2=1.013,P=0.602)。结论 Tim-1基因-416G>C位点与蒙古族儿童哮喘易感性相关。

Objective To explore whether the SNPs in TIM-1 exon 4 （157insMTTTVP） and two polymorphism loci,-416G〉 C,-1454G〉A at promoter region were associated with childhood asthma in population in Inner Mongolia. Methods Poly- merase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to test the genotypes of three poly- morphism loci among 129 cases of asthma and 130 controls in a case-control study. Using the count data of genotypes/alleles in SPSS17.0 ,Fisher x2 test was used to analyze the statistical differences. Results TIM-1 -416G〉C polymorphism was associated with childhood asthma in population in Inner Mongolia （OR=1. 682,95 % CI 1. 146-2. 268, P〈0.05）, but at promoter region -1454G〉A polymorphism （x2=0. 561, P=0. 755） and exon 4 （157insMTTTVP） at exon region （x2=1. 013, P=0. 602） were not. Conclusion The results indicated that -416G〉C polymorphism of the TIM-1 gene was associated with childhood asthma in population in Inner Mongolia.