Tim-3启动子区基因多态性与类风湿关节炎之间关系的研究

Study on the relation between polymorphism sites of Tim-3 promoter region and rheumatoid arthritis in Han adult population from Hubei Province of China

目的分析湖北省汉族成人T细胞免疫球蛋白域黏蛋白域蛋白-3(Tim-3)启动子区-1541C>T和-574G>T单核苷酸多态性(SNP),探讨其与类风湿关节炎(RA)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)和等位基因特异性聚合酶链反应(AS-PCR)检测湖北省115例RA患者和100名健康者Tim-3启动子区-1541C>T和-574G>T的SNP,计算基因型和等位基因频率。结果①湖北省健康人群Tim-3启动子区-1541位C/C、C/T和T/T基因型频率分别是0.960、0.040和0,而RA患者其频率分别为0.948、0.052、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>0.05);②湖北省健康人群Tim-3启动子区-574位G/G、G/T和T/T基因型频率分别是0.990、0.010和0,而RA患者频率分别为0.974、0.026、0,其基因型和等位基因频率均与对照组比较差异无统计学意义(P>0.05)。结论湖北汉族人群Tim-3启动子区-1541和-574位存在单核苷酸多态性变异,但这两位点的变异与该地区汉族成人RA易感性无关。

Objective To investigate two single nueleotide polymorphism sites of the promoter region of mucin domain prntein-3 （Tim-3） and the inmmnoglobulin domain of T cells and rheumatoid arthritis （HA） in Han adult population from Hubei Provittce of China. Methods The polymorrphism was detected with polymerase chain reaetion -restrietion fragnlenl length polymorphism （PCR-RFLP） and allelic specific polymerase chain reaction （ASPCR）. The genotype and alleles frequencies were calculated and analyzed. Results ①The genotype frequencies of C/C ,C/T and T/T in -1541 C〉T polymorphism were 0.960,0.040 and 0 respectively in healthy population and were 0.948,0.052 and 0 tespectively in RA population. No significant difference in geno type and alleles frequencies was found belween RA patients and the control subjects （P〉0.05）;②The geno type frequeneies of G/G,G/T and T/T in -574 G〉T polymorphism were 0.990,0.010 and 0 respectively in heahthy population and were 0.974,0.026 and 0 respectively in RA population. No significant difference in genotype and alleles frequeneies was found between RA patients and the control subjects （P〉0.05）. Conclusion There are polymorphism sites of the promoter region in Tim-3. but these two polymorphism sites are not associated with rheumatoid in Han adult population from Hubei Province of China.