湖南汉族人群CTLA4基因+49G/A多态性与乙肝感染和乙肝源性肝癌相关性的初步研究

Association of CTLA4 gene +49G/A polymorphism with HBV infection and HBV-related hepatocellular carcinoma in Hunan Han population

目的检测湖南汉族人群中CTLA4基因多态性(+49G/A位点)分布情况,并探讨CTLA4基因多态性(+49G/A位点)与乙肝感染及乙肝源性肝癌(HCC)的相关性。方法应用基因测序技术对湖南149例HCC患者、155例慢性乙型肝炎(CHB)患者和165例正常人CTLA4基因+49G/A位点进行研究,同时结合HBsAg、HBeAg、谷丙转氨酶、谷草转氨酶和甲胎蛋白浓度分析此多态性与乙肝感染及乙肝源性HCC之间的关系。结果 HCC组中基因型分布为:GG型40.3%,AG+AA型59.7%;CHB组中基因型分布为:GG型50.0%,AG+AA型50.0%;对照组中分布为:GG型61.8%,AG+AA型38.2%。HCC组、CHB组和对照组中等位基因A和G的分布频率分别为44.6%和55.4%、37.4%和62.6%、28.8%和71.2%。3组间两两比较,基因型频率分布和等位基因频率分布均有显著差异(P<0.05)。结论湖南汉族人群中CTLA4基因+49G/A多态性可能与乙肝感染和乙肝源性HCC的发生相关。

Objective To investigate the relationship between CTLA4 ＋49G/A SNP polymorphism and the susceptibility to hepatitis B virus （HBV）-related hepatocelluLar carcinoma （HCC）. Methods CTLA4＋49G/A single nucleotide polymorphism （SNP） was analyzed by DNA sequencing in 165 control subjects, 155 patients with chronic hepatitis B （CHB） and 149 HCC patients. Serum HBsAg, HBeAgand AFP levels were measured in all the subjects. Results In HCC and CHB groups, the genotype frequency was 40.3% and 50.0% for GG, and 59.7% and 50.0% for AG＋AA, respectively, while the genotype frequency was 61.8% for GG and 38.2% for AG＋AA in the control group. In HCC group, CHB group and controls, the A allele frequencies was 44.6%, 37.4% and 28.8%, and the G allele frequencies was 55.4%, 62.6% and 71.2%, respectively. Significant differences were found not only in the allele frequencies （P〈0.05） but also in AA and combined （AA＋AG） genotype frequencies （P〈0.05） between the 3 groups. Conclusion ＋49G/A SNP of the CTLA4 gene can be associated with HBV and HBV-related HCC.