湖北汉族人群TIM-3基因多态性与变应性哮喘的相关性

Study on relationship between polymorphism sites of TIM-3 and allergic asthma in a population of adult Hans from Hubei province of China

目的分析湖北地区汉族人群T细胞免疫球蛋白域粘蛋白域蛋白-3(Tcells immunoglobulindomain and mucin domain protein-3,TIM-3)启动子区-1541C/T和-574G/T单核苷酸多态性,探讨其与支气管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和等位基因特异性聚合酶链反应检测湖北地区153例哮喘患者和130名健康者TIM-3启动子区-1541C/T和-574G/T的单核苷酸多态性,计算基因型和等位基因频率。结果(1)湖北地区健康人群TIM-3启动子区-1541位CC、CT和TT基因型频率分别是0.961、0.039和0,而哮喘人群其频率分别为0.935、0.065、0,其基因型和等位基因频率均与对照组差异无统计学意义(P=0.314,P=0.321);(2)湖北地区健康人群TIM-3启动子区-574位GG、GT和TT基因型频率分别是0.992、0.008和0,而哮喘人群频率分别为0.941、0.059、0,其基因型和等位基因频率均与对照组差异有统计学意义(P=0.046,P=0.048)。结论湖北汉族人群TIM-3启动子区存在多态性变异,其中-574G/T单核苷酸多态性可能与湖北地区汉族成人变应性哮喘易感性有关。

Objective To investigate two single nueleotide polymorphism sites of the promoter region in T cells immunoglobulin domain and mucin domain protein-3 （ T/M-3 ） and detect their relationship with allergic asthma in a population of adult Hans from Hubei province of China. Methods The polymorphisms were detected with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and allelic specific polymerase chain reaction （ASPCR）, The genotype and allele frequencies were calculated and analyzed. Results The genotype frequencies of CC,CT and Tr in - 1541 C/T polymorphism were 0.961, 0.039 and 0 respectively in the healthy population and were 0.935,0,065 and 0 respectively in the allergic asthma population. No significant difference in genotype and alleles frequencies was found between the allergic asthma patients and control subjects （ P = 0.314, P = 0.321 ）. The genotype frequencies of GG, GT and TT in - 574 T/G polymorphism were 0.992, 0.008 and 0 respectively in the healthy population and were 0. 941, 0. 059 and 0 respectively in the allergic asthma population. There was significant difference in genotype and allele frequencies between the allergic asthma patients and control subjects （ P = 0. 046, P = 0. 048）. Conclusion There are polymorphism sites of the promoter region in T/M-3 , and one of these sites, the - 574 G/T polymorphism site, may be associated with allergic asthma in the population of adult Hans from Hubei province of China.