中国山东汉族人群TIM-3基因启动子区域两单核苷酸多态与支气管哮喘的相关性

Two single nucleotide polymorphisms in TIM-3 gene promoter region are associated with asthma susceptibility in a Chinese Han population from Shandong Province

目的:检测中国山东汉族人群T细胞免疫球蛋白域和粘蛋白域蛋白-3(T-cell immunoglobulin do-main and mucin domain protein-3,TIM-3)基因启动子区域的单核苷酸多态(single nucleotide polymorphism,SNP)位点T-882C以及T-574G的多态性,探讨TIM-3基因启动子区域的单核苷酸多态与汉族人群支气管哮喘易感性的关系。方法:采用聚合酶链反应-限制性片断长度多态性(polymerase chain reaction and restriction fragmentlength polymorphism,PCR-RFLP)法检测449例哮喘患者以及386例正常对照TIM-3基因启动子区域单核甘酸多态位点T-882C及T-574G的基因型,计算基因型频率及等位基因频率,进行χ2检验。结果:T-882C及T-574G在中国汉族人群中处于完全连锁不平衡状态,其基因型频率及等位基因频率一致;T-882C位点TT/TC/CC基因型频率以及T-574G位点TT/TG/GG基因型频率在病例组中为0/0.042 3/0.957 7,在对照组中为0/0.018 1/0.981 9;两位点的基因型、等位基因分布以及单倍体型分布在哮喘组与对照组之间均有统计学差异。结论:中国汉族人群TIM-3基因启动子区域单核苷酸多态T-882C、T-574G与支气管哮喘易感性相关。

[ABSTRACT] Objective： To analyze two single nucleotide polymorphisms （SNPs） T-882C and T-574G in TIM- 3 （T-cell immunoglobulin domain and mucin domain protein-3） gene promoter region and evaluate the association between the two SNPs and asthma susceptibility in a Chinese Han population from Shandong Province. Methods： The genotype and allele frequencies of SNPs T-882C and T-574G in 449 asthma patients and 386 healthy controls were detected with polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） method and then analyzed with Chi-square test. Haplotypes of the TIM-3 gene promoter region was constructed with SHEsis software. Results： SNPs T-882C and T-574G were in complete linkage disequlibrium （LD） and had the same genotype and allele frequencies.Frequencies of TT/TC/CC genotypes at T-882C site and frequencies of TT/TG/C,G genotypes at T-574G site were 0/0. 042 3/0.957 7 in the asthma patients and 0/0.018 1/0.981 9 in the healthy eontrols. The genotype and allele frequeneies of the two SNPs in asthma patients were signifieantly different from those in the healthy eontrols. Signifieant differenee in haplotype frequeneies was also found between the asthma patients and the healthy eontrols. Conclusion： SNPs T-882C and T-574G in TIM-3 gene promoter region might be associated with asthma suseeptibility in a Chinese Han population from Shandong Provinee.