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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
Objective To investigate the association of rheumatoid arthritis (RA) with HLA DRB1 gene common epitope (SE) in Shandong Han population. Methods A total of 17 alleles of HLA DRB1 0 1, 0 4, 1 0 in RA patients and 130 healthy controls from Shandong Province were detected by PCR-specific polymerase chain reaction (PCR-SSP) . Results The frequencies of genes carrying SE in Shandong RA patients were significantly higher than those in controls (500%, 223%, P <0.01). HLA DR4 subtype 0405 was the predominant susceptibility gene (2 2 8%: 100%, P <0 0 0 5). Other subtypes include DRB1 0 1 0 1 (38%: 31%), 0 1 0 2 (23%: 23%), 0 1 0 3 (38%: 3 1%), 0 1 0 4 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0%), 0 4 0 3 (6 8%: 3 1%), 0 4 0 2 (68%: 46% (23%: 0), 0 4 0 6 (1 5%: 0), 0 4 1 0 (0 8%: 0), 0 4 1 1 (0 8%: 0) and 1 0 0 1 1 4%: 69%) had no significant difference. Logistic regression analysis showed that homozygotes of SE were more harmful to RA than their heterozygotes (P <0.01). Conclusions SE is associated with RA susceptibility and severity of illness in Shandong Han