TAP基因多态性与维吾尔族人群类风湿关节炎的相关性

The Association between TAP Gene Polymorphisms and Rheumatoid Arthritis(RA) in Weiwuer Nationality

目的研究抗原处理相关转运体(TAP)在新疆维吾尔族人群基因多态性及其与类风湿关节炎(RA)的相关性。方法采用ASPCR方法对64例RA患者和72例正常人的TAP基因进行分析。结果健康维吾尔族人群TAP1 333位和637位等位基因基因型分别以I和D为主,表现型主要为II和DD,TAP2 379、565、665、687等位基因基因型分别以I-A-T-S为主,表现型以II-AA-AT-SS为主;RA患者TAP2 379-V,687-Q,687-QQ频率显著降低,687-S,379-II,687-SS频率显著升高。结论维吾尔族健康人群及RA患者TAP基因多态性有不同于其他民族人群的基本特点。TAP2 379-II、687-SS型患RA的相对危险性增加,并可能是维吾尔患者RA的易感基因。

Objective To investigate the association between transport-associated antigen processing （TAP） gene polymorphisms and rheumatoid arthritis （RA） in Weiwuer nationality of Xinjiang. Methods The frequencies of the alleles at position 333,637 for TAP1 and 379, 565, 665, 687 for TAP2 in 64 RA patients and 72 healthy controls of Weiwuer nationality were defined by ASPCR. Results The genotype Ⅰ,D are over-presented at position 333 , 637 for TAP1 and Ⅰ,A,T,S at 379 ,565,665 and 687 for TAP2, Whereas the Ⅱ , DD are over-presented for TAP1 and Ⅱ, AA AT,SS, for TAP2 in healthy controls. The frequencies of genotype 379-V, 687-Q and phenotype 687-QQ are significantly decreased in RA patients. However, the frequencies of genotype 687-S, phenotype 379-Ⅱ and 687-SS are significantly increased in RA patients. Conclusion TAP polymorphisms in Weiwuer nationality have its own characteristics. The phenotype 379-Ⅱ and 687-SS could make individuals more susceptible to RA.