中文摘要：

目的探讨人类白细胞抗原（HLA）DQAl基因拷贝数变异（CNV）与中国汉族人群乙型肝炎病毒（HBV）感染后不同转归和疾病进展的关系。方法采用AccuC opy CNV检测技术检测825例慢性HBV感染患者和287例急性自限性HBV感染者的HLA-DQAl基因CNV,采用χ2检验等分析HLA-DQA1 CNV与HBV感染后慢性化和疾病进展的发病风险。结果在HBV感染后急慢性转归方面,急性自限性HBV感染组HLA-DQA1拷贝数〉2的比例显著高于慢性HBV感染组（15.3%vs 6.9%,χ2=25.22,P〈0.001）。在慢性HBV感染后疾病进展方面,随疾病进展,HLA-DQAl基因拷贝数〈2的比例在慢性乙型肝炎（CHB）组、肝硬化（LC）组和肝癌（HCC）组3组间逐渐增加,分别为10.1%,15.3%和27.9%,差异有统计学意义（χ2=25.66,P〈0.001）。根据E抗原分组分析显示,E抗原阳性患者组和E抗原阴性患者组HLA-DQA1 CNV的比例无显著性差异。结论 HLA-DQA1基因CNV是HBV感染慢性化的遗传易感因素,HLA-DQA1基因拷贝数减少可能是HBV感染慢性化和疾病进展的危险因素。

英文摘要：

Objective To explore the association between the copy number variation （CNV） of HLA-DQA1 gene and the outcome of HBV infection in Chinese Han population. Methods The HLA-DQA1 CNV of 825 patients with chronic HBV infection and 287 patients with acute self-limiting HBV infection was detected by AccuCopy assay. The chi-square test was used to evaluate the impact of HLA-DQA1 CNV on the outcome and disease progression after HBV infection. Results In the outcome of HBV infection, the proportion of HLA-DQA1 〉2 copy number in acute self-limiting HBV infection group was significantly higher than the proportion in chronic HBV infection group, 15.3% vs 6.9% ,P 〈0. 001. In the disease progression of chronic HBV infection, the proportion of HLA-DQA1 〉 2 copy number in the CHB, LC and HCC groups gradually increased, 10. 1%, 15.3%, 27.9%, P 〈0.001. There was no significant difference between the proportion of the HLA-DQA1 copy number in the E antigen positive patients group and E antigen negative patients. Conclusion The CNV of HLA-DQA1 gene is the susceptibility factor of chronic HBV infection and the decrease of HLA-DQA1 copy number is a risk factor for the ehronieity of HBV infection and disease progression after chronic HBV infection.