DQA1基因启动子区及编码区与大动脉炎的关联研究  

The association of polymorphisms in the HLA-DQ gene with Takayasu arteritis

作　　者：吕纳强[1] 党爱民[1] 郑德裕[1] 刘国仗[1] 

机构地区：[1]北京协和医学院中国医学科学院阜外心血管病医院特需医疗中心,北京市100037

出　　处：《中国心血管病研究》2014年第8期673-676,共4页Chinese Journal of Cardiovascular Research

基　　金：国家自然科学基金（项目编号：30370568）

摘　　要：目的 大动脉炎（Takayasu arteritis）是一种累及主动脉及其主要分支的慢性进行性非特异血管炎性疾病.本研究以人类白细胞抗原（HLA）-DQA1为候选基因分析其编码区基因型和启动子区多态性与中国大动脉炎的关联.方法 采用病例对照研究的方法,入选中国汉族大动脉炎患者100例和健康对照104例,应用聚合酶链反应-序列特异性引物（PCR-SSP）和聚合酶链反应-单链构象多态性分析（PCR-SSCP）方法检测HLA-DQA1基因编码区和启动子区基因型,并分析基因型与疾病的关联.结果 具有类似DQα链蛋白抗原结合槽部位肽结合袋的氨基酸组成结构的DQA1＊0301/2/3基因型,在大动脉炎组显著低于对照组（P=0.003）.DQA1启动子QAP 1.3在大动脉炎组低于对照组（P=0.036）.结论 DQA1＊0301/2/3基因型、DQA1启动子QAP 1.3基因型可能是大动脉炎的保护基因型.Objective Takayasu artefitis （TA） is a chronic inflammatory artefitis affecting the aorta and its main branches. In this study a population based case-control study was used to analyze the association of polymorphisms in the HLA-DQA1 gene and DQA1 promoter （QAP） with the development of TA in Chinese Han population. Methods The study selected 100 TA patients and 104 healthy control subjects. Genotyping of polymorphisms in the ceding region of HLA-DQA1 gene were performed with polymerase chain reaction-sequence specific primer（PCR-SSP）. Polymerase chain reaction-single-strand conformation polymorphism（PCR-SSCP） was used to screen the mutations in the promoter region of HLA-DQA1 gene. Results The frequency of DQAI＊0301/ 2/3 allele in TA patients was significantly lower than that in control subjects （P=0.003）. The frequency of QAP 1.3 in TA patients was significantly lower than that in control subjects （P=0.036）. Conclusion The alleles of DQAl＊0301/2/3, QAP1.3 are the resistant factors to TA.

关 键 词：大动脉炎 DQA1等位基因 HLA基因 

分 类 号：R543.1[医药卫生—心血管疾病]