新疆哈萨克族人群RA流行病学和中医证候调查及与PTPN22基因多态性研究

Rheumatoid arthritis (RA) is a chronic inflammatory disease involving many organs and tissues which is easily misdiagnosed at early, and causes to loss of joint and muscle function at later period. Predicted lifetime of RA patients should be reducing and the annually average cost of patient should be rising. Therefore, RA screening and prevention are not merely the common concern of international rheumatism scholars, but also a global public health event. Epidemiological investigation be imperative. The population in Chinese kazak of Xinjiang autonomous regions is very different from others inland in the ways of life or living environment, which have more clinical cases with RA. The epidemiology survey on RA of Chinese kazak should be based on the standard of the latest ACR/EULAR methodology in 2010, which focused on the early characteristics of disease. Someone reported the association between PTPN22 polymorphism and RA. But there have not the same race and region, there has not same gene expression. In china, the Han nationality RA has closely with the gene PTPN22, one frequent SNP,-1123G>C. The gene with the Kazakh people with RA is still uncertain. Selecting three PTPN22 SNPs for genotyping: rs2488457(promoter, -1123G>C), rs33996649(788G>A) and rs1310181(intron 16) were be tested and analysed with RA pathogenesis in Chinese kazak of Altay prefecture of Xinjiang autonomous regions. This discussion should reveal its early diagnostic value and specificity for clinical RA, early diagnosis, therapy.

RA是一种累及多器官组织的慢性炎症性疾病，早期极易漏误诊，晚期会导致关节肌肉功能丧失，患者预期的生存期减少、医疗费用增加。RA筛查和防治不仅成为国际风湿病学术界共同关注的重点，而且已成为全球性的公共卫生事件，流行病学调查势在必行。中国哈萨克族人群与大陆其他地区人群无论生活方式还是居住环境都有显著的差异，且罹患RA临床病例较多。本研究采用最新的2010年ACR/EULAR类风湿性关节炎分类标准进行中国哈萨克族人群RA的流行病学调查，重点关注疾病的早期临床特征。PTPN22基因是RA相关遗传易感基因，不同种族、不同地域其表达并不一致。中国汉族RA与-1123G>C位点基因关系密切，该基因与哈萨克族RA人群有什么样的联系尚不确定。选择启动子区、外显子区、内含子分析这些位点在RA患者与健康对照之间基因型分布差异及这些差异与RA各具体临床症状（中医证候）之间的关联进行研究，分析PTPN22基因表达与SNP之间相关性，为RA的病因、发病机制和诊断提供依据。