HLA-DRB1、DQB1基因与汉族人群寻常型天疱疮的相关性研究

目的　探讨 HL A- DRB1、DQB1位点基因在汉族人群寻常型天疱疮易感性中的作用。方法用序列特异性引物 -聚合酶链反应方法 ,对 6 1例寻常型天疱疮 (pemphigus vulgaris,PV)患者和 5 7名正常对照进行了 HL A- DRB1、DQB1等位基因的分型 ,并分析了 DRB1、DQB1基因在两组中的分布。结果　与正常对照组比较 ,PV组 DR4、DRB1* 14 (* 14 0 1、* 14 0 4、* 14 0 5 )基因频率明显增高 (Pc分别 <0 .0 5及P<0 .0 1) ,差异有显著性 ;PV组 DQB1* 0 5 0 3、DQB1* 0 30 2基因频率明显增高 (Pc均 <0 .0 5 ) ,差异有显著性。对 DR4阳性样本的组内基因亚型分型结果发现 ,PV组中 DRB1* 0 4 0 3、DRB1* 0 4 0 6频率显著增高(Pc<0 .0 5 ) ,差异有显著性。 PV患者组单倍型 HL A- DRB1* 0 4 ,DQB1* 0 30 2和 HL A- DRB1* 14 ,DQB1* 0 5 0 3频率明显增高 (P<0 .0 5 )。结论　HL A- DRB1* 0 4 ,DQB1* 0 30 2和 HL A- DRB1* 14 ,DQB1* 0 5 0 3可能是汉族人 PV推测的易感单倍型。

Association between HLA-DRB1, DQB1 genes and pemphigus vulgaris in Chinese Hans

Objective To investigate the predisposing role of HLA DRB1, DQB1 genes in pemphigus vulgaris (PV). Methods Polymerase chain reaction specific sequence primers method was used to type HLA DRB1, DQB1 subregion in the patients with PV of Han nationality from Jiangsu and Anhui provinces and matched control subjects. Results DR4, DRB1*14(*1401,*1404,*1405) gene frequencies in PV patients were significantly higher than those in controls ( Pc <0 05 and Pc <0 01 respectively). DQB1*0302, DQB1*0503 gene frequencies were significantly higher in PV patients ( Pc <0 05). Further typing of DR4 positive subjects revealed that the gene frequencies of DRB1*0406, *0403 were significantly increased in PV patients as compared with controls ( Pc <0.05). The haplotype frequencies of HLA DRB1*04, DQB1*0302 and HLA DRB1*14, DQB1*0503 in PV patients were significantly higher than those in controls ( P <0 05). Conclusion The results suggest that the combination of HLA DRB1*4, DQB1*0302 and HLA DRB1*14, DQB1*0503 forms putative susceptible haplotypes for PV patients in Chinese Hans.