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目的:探讨原发性胆汁性肝硬化(primary biliary cirrhosis,PBC)患者人群与人类自细胞抗原(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。
Objective: To investigate the association between human primary anti-HLA-DRB1 alleles and the population of patients with primary biliary cirrhosis (PBC) and to assess the relationship between susceptibility genes and some clinical and laboratory features . Methods: HLA-DRB1 alleles and their related subtypes were analyzed in 65 patients with PBC and 431 healthy individuals by sequence-specific primer PCR (SSP-PCR). Results: The frequency of DRB1 * 07 was 29.2% in PBC patients, which was significantly different from 13.9% in normal subjects (P <0.05, relative risk OR was 2.55, 95% CI: 1.4 ~ 4.6) The subtypes of positive patients were all DRB1 * 0701; the other DRB1 alleles had no significant difference compared with normal subjects. DRB1 * 0701 positive patient population and negative patients in some clinical, laboratory indicators no significant difference. Conclusion: The PBC in Chinese population is associated with HLA-DRB1 * 0701 gene, which is significantly different from susceptible genes in PBC patients in other countries such as South America, North America, Northern Europe and Japan, and provides clues for further immunotherapy in patients with PBC.