湖北地区汉族变应性哮喘患儿TIM-3启动子区基因多态性研究

Study on the relationship between polymorphism sites of the promoter region in Tim-3 and allergic asthma in children population of the Han nationality from Hubei Province of China

目的探讨湖北地区汉族儿童T细胞免疫球蛋白黏蛋白域蛋白-3(TIM-3)启动子区1541位C>T和574位G>T单核苷酸变异及其与变应性哮喘易感性之间的关系。方法分别采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和引物特异PCR-核酸序列测定技术检测湖北143例哮喘患儿和72名健康儿童TIM-3启动子区1541位C>T和574位G>T单核苷酸变异,计算基因型和等位基因频率。结果湖北地区健康儿童TIM-3启动子区1541位C/C、C/T和T/T基因型频率分别是0.961、0.039和0,而哮喘患儿频率分别为0.935、0.065、0,其基因型频率与对照组差异无统计学意义(Χ2=0.3825,P=0.5362);湖北健康儿童中TIM-3启动子区574位G/G、G/T和T/T基因型频率分别为0.992、0.008和0,而哮喘患儿频率分别为0.941、0.059、0,两组基因型频率差异有统计学意义(Χ2=4.134,P=0.042)。结论湖北汉族儿童TIM-3启动子区存在多态性变异,其中574位G>T多态性可能与湖北汉族儿童变应性哮喘易感性有关。

Objective To investigate the polymorphism sites of the promoter region in T cells, immunoglobulin domain and mucin domain protein-3 （Tim-3） and allergic asthma in children population of the Han nationality from Hubei Province of China. Methods The polymorphism were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and allelic specific polymerase chain reaction （ASPCR）. The genotype and alleles frequencies were calculated and analyzed. Results The genotype frequencies of C/C, C/T and T/T in 1541 C 〉 T polymorphism were 0. 961,0. 039 and 0, respectively in healthy population and were 0. 935,0. 065 and 0, respectively in allergy asthma population （χ^2 = 0. 3825, P = 0. 5362）. The genotype frequencies of G/G,G/T and T/T in 574 G〉T polymorphism were 0. 992,0. 008 and 0, respectively in healthy population and were 0. 941,0. 059 and 0, respectively in allergy asthma population. There was significant difference in genotype frequencies that was found between allergic asthma patients and control subjects in 574 G 〉 T polymorphism site （χ^2 = 4. 134 ,P =0. 042）. Conclusion There is polymorphism site of the promoter region in Tim-3 and 574 G 〉 T polymorphism site in Tim-3 may be associated with allergic asthma in children population of the Han nationality from Hubei province of China.