类风湿关节炎患者蛋白酪氨酸磷酸酶非受体型22基因多态性的研究  

Research for the protein tyrosine phosphatase nonreceptor 22 gene polymorphism in rheumatoid arthritis patients

作　　者：冯雪[1] 李永哲[1] 张洋[1] 包书萌[1] 佟大伟[1] 张蜀澜[1] 胡朝军[1] 

机构地区：[1]中国医学科学院北京协和医院风湿免疫科,100032

出　　处：《中华检验医学杂志》2008年第12期1340-1343,共4页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金资助项目（30471617,30640084）;国家高技术研究发展计划（“863”计划）基金资助项目（2002AA2Z2011,2006AA02Z436）

摘　　要：目的探讨蛋白酪氨酸磷酸酶非受体型22（the protein tyrosine phosphatase nonreceptor 22，PTPN22）基因1123G〉C（rs2488457）单核苷酸多态性（SNP）与类风湿关节炎（RA）的关系。方法采用实时荧光定量PCR对200例RA患者，100例其他风湿病患者，200名健康体检者PTPN22基因进行分型。用SPSS11．0软件进行统计学分析和行X列表，检验。结果RA组PTPN22CC基因型频率（0．120）与其他风湿病组（0．020）及健康对照组（0．015）比较差异有统计学意义（x^2值分别为18．708和24．337，P均〈0．01），而其他风湿病组与健康对照组比较，差异无统计学意义（x^2值为1．066，P〉0．05）；RA组C等位基因频率（0．360）明显高于其他风湿病组（0．190）及健康对照组（0．215），且差异有统计学意义（P〈0．05）。结论PTPN22基因可能是RA的易感基因和RA等自身免疫病治疗的靶基因之一。Objective To investigate the relationship between the PTPN22 gene polymorphism and rheumatoid arthritis （RA）. Methods Real time fluorescent quantitation PCR was used to detect the 1123G 〉 C polymorphism of the PTPN22 gene from 200 RA patients, 100 others rheumatic diseases and 200 the normal controls. The results were analyzed by SPSS 11.0 software. Results The CC genotype frequencies of RA patients, others rheumatic diseases and the normal controls were 0. 120,0. 020 and 0. 015 respectively. There was a significant difference between RA patients and others rheumatic diseases （X^2 = 18. 708 ,P 〈 0. 01 ）. There was a significant difference between RA patients and the normal controls （X^2 =24. 337 ,P 〈0. 01 ）. There was not statistically significant between others rheumatic diseases and the normal controls（x^2 = 1. 066,P 〉 0. 05 ）. The C allele frequency of RA patients, others rheumatic diseases and the normal controls were 0.360, 0. 190 and 0.215 respectively. The results were significant difference. Conclusion The PTPN22 gene could be one of predisposing genes and the therapeutic target genes with RA patients.

关 键 词：关节炎 类风湿 蛋白质酪氨酸磷酸酶 多态性 单核苷酸 

分 类 号：R686[医药卫生—骨科学]