PTPN22 G788A和A10281188G与广东地区人群RA易感性的关系研究

目的探讨蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因多态性（rs33996649/G788A/R263Q和rs1310182/A10281188G）与广东地区汉族人群类风湿性关节炎（RA）易感性间的关系。方法选取广东地区人群中218例RA患者以及229例健康对照者进行病例对照研究,采用PCR-RFLP技术检测PTPN22G788A和A10281188G两个多态性位点的基因型,计算比较两组基因型和等位基因频率。结果 RA患者和健康对照者PTPN22在788位点均为G等位基因,未检测到A等位基因,没有发现单核苷酸多态性的存在;10281188位点G等位基因在病例组和对照组中的频率分别为12.4%和13.3%（P〉0.05）。结论广东地区人群PTPN22788位点不存在多态性,G788A和A10281188G基因位点与广东汉族人群RA的发病无相关性。

PTPN22-G788A and A10281188G are not Associated with RA of Chinese People in Guangdong Area

Objective To investigate the correlation between the gene polymorphism of PTPN22-（rs33996649 / G788A / R263Q） and （rs1310182 / A10281188G） and rheumatoid arthritis （RA） in the Chinese population in Guangdong area. Methods 218 RA patients and 229 healthy subjects were enrolled in this case-control study. Genotyping of the PTPN22 SNPs was performed using polymerase chain reaction-based restriction fragment length polymorphism method. The comparisons of genotype and allele frequencies were made. Results The G allele was not detected in all samples and A allele did the contrast in site 788. No SNP was detected. The distribution of G alle in site A10281188G between case and control are 12.4% and 13.3% ,respectively （P0.05）. Conclusion Genetic polymorphism at the site 788 was not detected in the population living in the Guangdong area. The presence of G788A and A10281188G was not associated with the occurrence of RA.