目的:初步探讨中国北方汉族人群原发性胆汁性肝硬变(PBC)患者与人类白细胞抗原(HLA)-DRB等位基因的相关性。方法:利用基因芯片技术对40例中国北方汉族PBC患者和67例健康对照人群进行了HLA-DRB等位基因的分型检测。两组年龄构成和男、女比例均无统计学差异。结果:本组PBC患者中HLA-DR7的出现频率为50%,远高于健康对照组的10.4%(X^2=20.77,P=0.000,RR=8.57),同时也高于文献报道的两组中国北方健康人群中的出现频率[分别为23.2%(N=342,P=0.000)和29%(N=255,P=0.008)3。本组PBC患者中HLA-DR8的检出率为22.5%,明显高于健康对照组的7.5%(X^2=4.980,P=0.026,RR=3.60),同时也高于文献报道的两组中国北方健康人群中的出现频率[11.2%(N=342,P=0.038)和10.2%(N=255,P=0.025)]。结论:HLA—DR7和DR8基因可能与中国北方人群的PBC发病有一定的相关性,其中DR?在国外文献中尚未见报道。
Objective: To investigate the relationship between HLA-DRB alleles and primary biliary cirrhosis (PBC) in patients living in northern China. Methods: The HLA-DR genes of 40 PBC patients and 67 healthy controls were genotyped by using DNA microarray technique. The subjects in the 2 groups were matchable in their ages and gender ratios. Results: The frequency of HLA-DR7 was 50% in PBC patients, which was significantly higher than that of healthy controls (10.4 % ) (X^2= 20. 77,P=0. 000,RR=8.57) and those reported in another 2 literatures (23.2%, [N=342, P=0. 000] and 29%, [N=255, P=0. 008]). The frequency of HLA-DR8 was 22. 5% in PBC patients, which was significantly higher than that of healthy controls (7.5 %, [X^2 = 4. 980, P = 0. 026, RR = 3.60]) and those reported in the other 2 literatures ( 11.2 %, [ N = 342, P = 0. 038] and 10. 2% [N=255, P=0. 025]). Conclusion: It is suggested that the morbidity of PBC in northern Chinese citizens is associated with HLA-DR7 and DR8. DR7 has not been reported in literatures outside China.