原发性胆汁性肝硬化与HLA-DRB1等位基因的相关分析

目的:探讨原发性胆汁性肝硬化(primary biliary cirrhosis,PBC)患者人群与人类白细胞抗原(HLA)-DRB1等位基因的相关性,评估易感基因与一些临床及实验室特征的相互关系.方法:利用序列特异性引物PCR(SSP-PCR)对65例确诊为PBC的患者和431例健康人进行HLA-DRB1等位基因以及有关基因亚型分析.结果:PBC患者DRB1*07的频率为29.2%,与正常人的13.9%相比存在显著性差异(Pc＜0.05,相对危险度OR为2.55,95%CI:1.4～4.6),所有DRB1*07阳性患者经亚型分析均为DRB1*0701;其余DRB1的等位基因频率与正常人比较无显著性差异.DRB1*0701阳性患者群体与阴性患者在一些临床、实验室指标上无显著差异.结论:中国人群PBC与HLA-DRB1*0701基因相关,与南美、北美、北欧甚至日本等其他国家PBC患者的易感基因明显不同,为进一步作针对PBC患者的免疫治疗提供线索.

Correlation analysis of primary biliary cirrhosis with HLA-DRB1 alleles polymorphism

Objective:To investigate the frequencies of HLA-DRBl alleles in Chinese patients with primary biliary cirrhosis(PBC) and to assess the role of HLA molecules in clinic and laboratory. Methods:Genotyping of HLA-DRBl was performed in 65 well-characterized PBC patients and 431 healthy controls with polymerase chain reaction-sequence-specific primers. Results: The frequency of DRB1 * 0701 was increased by 29. 2% compared with 13. 9% in controls(PC<0.05,OR = 2. 55,95%CI: 1. 4-4. 6),while frequencies for the other DRB1 alleles were similar in 2 groups. All DRB1 * 07 positive patients were further subtyped as DRB1 * 0701. There was no significant difference between patients with and without DRBl * 0701 in some clinical and laboratory features. Conclusion: Susceptibility to primary biliary cirrhosis in Chinese individuals is associated with DRBl * 0701 allele,which is different from those in North Americans,South Americans,North Europeans and even Japanese, which provides an important clue for a specific immunotherapy of this disease.