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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%(χ2=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)]。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%(χ2=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DR7在国外文献中尚未见报道。
Objective To investigate the association of human leukocyte antigen (HLA) DRB alleles with primary biliary cirrhosis (PBC) in Chinese Han population in northern China. Methods HLA-DRB alleles were genotyped in 40 Han Chinese PBC patients and 67 healthy controls in north China by gene chip technique. There was no significant difference in age composition and male and female ratio between the two groups. Results The frequency of HLA-DR7 in PBC patients was 50%, much higher than 10.4% in healthy controls (χ2 = 20.77, P = 0.000, RR = 8.57), and higher than those reported in the literature The frequency of occurrence in healthy subjects was 23.2% (N = 342, P = 0.000) and 29% (N = 255, P = 0.008), respectively. The detection rate of HLA-DR8 in PBC patients was 22.5%, which was significantly higher than that in healthy controls (χ2 = 4.980, P = 0.026, RR = 3.60) The frequency of occurrence in healthy subjects [11.2% (N = 342, P = 0.038) and 10.2% (N = 255, P = 0.025)]. Conclusions HLA-DR7 and DR8 genes may be related to the incidence of PBC in northern China. DR7 has not been reported in foreign literature.