【摘要】 目的　探讨HLA DQβ1基因多态性在中国汉族类风湿关节炎 (RA)发病中的作用及与患者临床指标的关系。方法　选取类风湿关节炎患者及健康对照各 4 2例 ,以序列特异性引物PCR (PCR SSP)技术对HLA DQβ1的 4 2种亚型进行检测 ,并分析患者病情、免疫学指标及关节破坏程度与各亚型之间的关系。结果　在RA患者组中HLA DQβ1 0 4 0 1和 0 5 0 1等位基因的频率 (分别为 11 9%、7 1% )显著高于对照组 (分别为 3 6 %、1 2 % ) (χ2 =4 0 85 ,RR =4 0 6 ;χ2 =4 72 5 ,RR=6 83;P <0 0 5 ) ,而HLA DQβ1 0 6 0 2的频率则明显低于对照组 (7 1%vs 19 0 % ) (χ2 =5 2 3;P<0 0 5 )。HLA DQβ1 0 4 0 1/ 0 30 1或 0 4 0 1/ 0 30 3及HLA DQβ1 0 5 0 1/ 0 30 1基因型在RA患者中的阳性率 (分别为 19 0 5 %、9 5 2 % )显著高于对照组 (分别为 2 38%、0 % ) (χ2 =6 0 98,P =0 0 14 ;χ2 =4 2 0 0 ,P =0 0 4 0 ) ,差异具有显著性。HLA DQβ1 0 3阳性的RA患者与阴性患者相比发病年龄早 ,关节破坏严重 ,关节外表现明显增多 ,并与部分实验室指标异常呈正相关 ,其中HLA DQβ1 0 3纯合子 (HLA DQβ1 0 3/ 0 3)患者的上述异常更为显著。 结论　HLA DQβ1 0 4 0 1及 0 5 0 1亚型、HLA DQβ1 0 4 0 1/ 0 3及HLA DQβ1更多还原

【Abstract】 Objective To evaluate the impact of HLA DQβ1 polymorphisms on susceptibility to rheumatoid arthritis (RA) in a population of Han nationality of China,and to investigate the relationship between HLA DQβ1 alleles and clinical features.Methods Forty two alleles from forty two RA patients and forty two healthy controls were typed for HLA DQβ1 loci using high resolution PCR SSP DNA technique.The clinical features,serologic parameters and X ray of the patients were analysed.Results The frequence of DQβ1*0401 and DQβ1 *0501 alleles in RA patients were significantly increased compared with healthy controls( P <0 05,respectively).Compared with healthy controls,the frequence of DQβ1*0602 allele in RA patients was decreased ( P <0 05).The frequence of RA patients expressing DQβ1*0401/0301 or *0401/0303 and DQβ1*0501/0301 genotype was significantly increased in comparison with healthy controls ( P =0 040).Patients with a DQβ1*03 allele had more severe disease.Conclusion These results suggest that DQβ1*0401 and DQβ1 *0501 alleles,DQβ1*0401/03 and DQβ1*0501/0301 genotype are associated with RA in Han nationality,and DQβ1*0602 may be a protective allele.The DQβ1 *03 allele might be a predictive marker for severe RA.更多还原