HLA-DR基因与汉族寻常型天疱疮易感性及临床表型相关性的研究

目的　探讨HLA DR位点基因在寻常型天疱疮 (PV)易感性中的作用以及DR基因与PV临床表型的相关性。方法　用序列特异性引物 聚合酶链反应 (PCR SSP)方法 ,对 61例PV患者和 5 7例正常对照者进行了HLA DR等位基因的分型 ,并分析了DR基因在两组中的分布 ;对 5 6例临床资料完整的PV患者进行了临床特征与HLA DR基因相关性的研究。结果　与正常对照组比较 ,PV患者组DR4、DRB1 14 ( 14 0 1、 14 0 4、 14 0 5 )基因频率明显增高 (校正P值分别 <0 .0 5及 <0 .0 1) ;对DR4阳性样本的组内基因亚型分型结果发现 ,PV组中DRB1 0 40 3、DRB1 0 40 6频率显著增高 (校正P值 <0 .0 5 )。重度皮损的患者中HLA DR4频率较轻度患者显著增高 (P <0 .0 1) ;高抗体滴度组患者中DRB1 14频率比低滴度组患者显著增高 (P <0 .0 1)。女性患者中DR4基因频率较男性患者显著增高 (P <0 .0 5 )。结论　DR4、DRB1 14基因可能是PV的易感基因 ;DR4、DRB1 14基因可能是反映PV病情轻重的一种标志。

Study on the Relationship between HLA-DR Alleles and the Susceptibility as well as the Clinic Phenotype of Pemphigus Vulgaris of Han Nationality

Objective To explore the predisposing role of HLA-DR genes in pemphigus and the association between HLA-DR genes and the clinic phenotype of PV.Methods We used polymerase chain reaction - specific sequence primers method to type HLA-DR subregion in the patients with pemphigus vulgaris (PV) of Han nationality from Jiangsu and Anhui provinces and in matched control subjects.We also studied the relationship between HLA-DR genes and clinical characteristics of 56 patients with PV.Results The results demonstrated that DR4,DRB1*14 (*1401,*1404,*1405)gene frequencies were significantly higher in patients with PV(P(<0.05) and <0.01 respectively)than those in controls.Further typing of DR4 positive subjects revealed that the gene frequencies of DRB1*0406,DRB1*0403 were significantly increased in PV compared with controls (P<0.05).Patients with severe lesions had statistically higher gene frequency of DR4 than that of the mild group(P<0.01). And those with antibody titer of 1:320 or greater had statistically higher gene frequency of DRB1*14 than those with the lower antibody titer group(P<0.01).In female patients with PV,the gene frequency of HLA-DR4 was significantly higher than that of male patients(P<0.05).Conclusion HLA-DR4, DR14 genes may be the susceptible genes in PV and a marker for the severity of PV.