HLA-DQ基因遗传变异与丙型肝炎病毒感染转归的相关性研究

目的 探讨遗人类白细胞抗原（human leukocyte antigen，HLA）DQ基因多态性与丙型肝炎感染转归的关联。方法 应用TaqMan探针方法检测339例丙型肝炎病毒（hepatitis C virus，HCV）持续感染者，262例HCV自限感染者和942例健康对照者HLA-DQ基因rs2856718和rs7453920位点的基因多态性，比较不同基因型与丙型肝炎病毒感染转归的关系。结果 采用多因素Logistic回归分析，结果显示rs2856718位点杂合基因型AG在感染组中的频率均低于对照组（调整OR=0.73，95%CI:0.56~0.94）；另外，rs7453920 AA基因型可增加个体对HCV的易感性（调整OR=1.75，95%CI:1.01~3.03）。结果显示，与AG单倍型相比，携带AA单倍型的个体可增加丙型肝炎易感性（调整OR=1.67，95%CI:1.11~2.52）。分层分析结果发现，在男性人群中，rs2856718位点的杂合基因型AG在感染组中的频率低于对照组（调整OR=0.68，95%CI:0.51~0.93）；在45~60岁人群中，rs7453920位点突变纯合基因型GG在感染组中的频率高于对照组（调整OR=2.35，95%CI:1.11~4.98）。结论 HLA-DQ基因多态性与丙型肝炎病毒感染转归存在关联。

Relationship between HLA-DQ polymorphisms and outcome of HCV infection

Objective To explore the association of human leukocyte antigen-DQ (HLA-DQ)polymorphisms with outcome of hepatitis C virus (HCV)infection. Methods Two variants of rs2856718 and rs7453920 were genotyped among 262 HCV spontaneous clearance cases, 339 persistent HCV infection cases and 942 uninfected controls by using TaqMan technology. Results Logistic regression analyses showed that the genotype AG of rs2856718 significantly decreased the risk of HCV infection (adjusted OR=0.73, 95% CI:0.56-0.94). Moreover, the genotype AA of rs7453920 was correlated with elevated risk HCV infection (adjusted OR=1.75, 95% CI:1.01-3.03). Haplotype analysis also showed that haplotype AA significantly increased the risk of HCV infection (adjusted OR=1.67, 95% CI:1.11-2.52). Stratified Analysis suggested that the frequency of rs2856718 AG genotyoe in HCV infected group was much lower than that of uninfected control group among male patients (adjusted OR=0.68, 95% CI:0.51-0.93); the frequency of rs7453920 GG genotyoe in HCV infected group was much higher than that of uninfected control group among people who was 45 to 60 years old (adjusted OR=2.35, 95% CI:1.11-4.98). Conclusions HLA-DQ polymorphisms might play a vital role in the outcome of HCV infection.