大动脉炎易感性与HLA-DRB基因相关性研究

Relationship between the susceptibility to aortoarteritis and HLA-DRB gene

目的 探讨大动脉炎易感性与HLA DRB等位基因频率的相关性。方法 以 84例汉族大动脉炎患者和 10 2例健康汉族人 (对照组 )为研究对象 ,采用PCR SSP及PCR RFLP方法进行HLA DRB等位基因分型 ,比较其等位基因频率在大动脉炎患者与对照组之间的差异。结果 HLA DR4、DR7等位基因频率在大动脉炎组显著高于对照组 (38 1%比 15 7% ,P <0 0 0 1,RR =2 43;47 6 %比10 8% ,P <0 0 0 1,RR =4 42 )而DR5 12基因在大动脉炎组低于正常对照组 (2 1 4%比 33 3% ,P =0 0 5 ,RR =0 6 2 )。HLA DRB4基因在大动脉炎组显著高于对照组 (85 7%比 42 2 % ,P <0 0 0 1,RR =2 0 3) ;HLA DRB3基因在大动脉炎组的频率显著低于对照组 (5 0 0 %比 70 6 % ,P =0 0 0 4,RR =0 71) ;而HLA DRB5基因的频率在大动脉炎组和正常对照组之间无显著性差异。此外 ,HLA DRB1 0 4基因亚型即DRB1 0 40 5基因亚型与除DRB1 0 40 5之外的其他亚型 (DRB1 0 40x)在大动脉炎患者和对照组之间无显著性差异。结论 HLA DR4、DR7基因阳性者患大动脉炎的危险性增加 ,其可能是大动脉炎的易感基因。

Objective To investigate the relationship between aortoarteritis and HLA DRB alleles gene in Chinese Han. Methods HLA DRB genotype was identified by PCR SSP and PCR RFLP in 84 aortoarteritis patients and 102 healthy controls. Results Compared with controls, the frequencies of HLA DR4 and DR7 in the aortoarteritis group increased significantly (38 10% vs 15 7%, P<0 001, RR= 2 43; 47 6% vs 10 8%, P< 0 001, RR= 4 42, respectively), DRB4 was also higher than that in the control group (85 7% vs 42 2%. P< 0 001, RR= 2 03). But HLA DR512 and DRB3 decreased remarkably (21 4% vs 33 3%, P= 0 05, RR= 0 62; 50 0% vs 70 6%, P=0 004, RR= 0 71, respectively). Further more, there was no significant difference in the frequency of DRB1*0405 subtypes between the patients and control group. Conclusions The susceptibility to aortoarteritis in Chinese Han is closely related to gene DR4 and DR7. HLA DR4 and DR7 are susceptible genes of aortoarteritis. People with HLA DR4 and DR7 have a higher risk of suffering from aortoarteritis.