【摘要】 目的　探讨山东地区汉族人群类风湿关节炎 (RA)与HLA DRB1基因共同表位 (SE)的关联性。方法　采用特异性引物聚合酶链反应 (PCR SSP)方法对山东地区人群 1 32例RA患者及1 30名正常健康者的HLA DRB1 0 1、 0 4、 1 0的 1 7个等位基因进行检测。结果　山东地区RA患者中携带有SE的基因频率显著高于正常对照组 (5 0 0 %∶2 2 3% ,P <0 0 1 ) ,HLA DR4亚型 0 4 0 5是主要的易感基因 (2 2 8%∶1 0 0 % ,P <0 0 0 5 )。其他亚型包括DRB1 0 1 0 1 (3 8%∶3 1 % ) , 0 1 0 2 (2 3%∶2 3% ) , 0 1 0 3(3 8%∶3 1 % ) , 0 1 0 4 (3 0 %∶2 3% ) , 0 4 0 1 (1 0 6 %∶4 6 % ) , 0 4 0 4 (9 1 %∶4 6 % ) , 0 4 0 7(8 3%∶9 2 % ) , 0 4 0 3(6 8%∶3 1 % ) , 0 4 0 2 (6 8%∶4 6 % ) , 0 4 0 8(5 3%∶1 5 % ) , 0 4 0 9(2 3%∶0 ) , 0 4 0 6 (1 5 %∶0 ) , 0 4 1 0 (0 8%∶0 ) , 0 4 1 1 (0 8%∶0 )和 1 0 0 1 (1 1 4 %∶6 9% )的差别均无统计学意义。Logistic回归分析表明 :SE纯合子对RA的危害性要比其杂合子大 (P <0 0 0 1 )。结论　SE与山东地区汉族RA易感性及疾病严重性有关联更多还原

【Abstract】 Objective To investigate the association between rheumatoid arthritis (RA) and the presence of the shared epitope (SE) of HLA DRB1 gene in Han nationality of Shandong population.Methods The method of DNA amplification with sequence specific primers (PCR SSP) was used to determine 17 alleles of HLA DRB101,04,10 genotypes in 132 RA patients and 130 healthy controls from the Han nationality population in Shandong.Results The frequencies of SE were significantly increased in RA patients compared with controls (50 0% vs 22 3%, P <0 001).Epitope analysis revealed that the most predominant allele subtype of DR4 (0405) was susceptibility sequences in Shandong patients with RA (22 8% vs 10 0%, P <0 005).No statistically significant differences of other subtypes of DR1, DR4 and DR10 were noted for other alleles including DRB10101 (3 8% vs 3 1%),0102 (2 3% vs 2 3%),0103(3 8% vs 3 1%),0104 (3 0% vs 2 3%),0401 (10 6% vs 4 6%),0404(9 1% vs 4 6%),0407 (8 3% vs 9 2%),0403 (6 8% vs 3 1%),0402 (6 8% vs 4 6%),0408 (5 3% vs 1 5%),0409 (2 3% vs 0),0406 (1 5% vs 0),0410 (0 8% vs 0),0411 (0 8% vs 0) and 1001 (11 4% vs 6 9%) respectively.Logistic regression analysis showed that the patients with SE homozygote were more severe than those with heterozygote ( P <0 01).Conclusion The results suggest that the association between SE of HLA DRB1 gene and susceptibility and severity to RA,especially,HLA DR4 subtypes are strongly associated with RA in Han nationality in Shandong population.更多还原