TGF-β1基因rs2241715位点T／T基因型人群患HBV感染相关性疾患的风险更高

The individuals with rs2241715 T/T genotype of the TGF-β1 gene have an increased risk for developing HBV infection-associated diseases

目的：确立3个在亚洲人群中高频杂合的TGF-β1单核苷酸多态性（single nucleotide polymorphism，SNP）新位点与HBV感染相关性疾病易感性的关系。方法：采用基因型特异性PCR方法，对129例HBV感染相关性疾病患者（慢性乙型肝炎74例、肝硬化41例、肝癌14例）和41例健康人对照的外周血细胞基因组DNA的TGF-β1基因中，3个在亚洲人群中呈高频率杂合的SNP位点（rs2241715、rs2241716、rs4803455）进行基因分型。结果：正常人的rs2241715基因型及等位基因频率与慢性乙型肝炎、肝硬化和肝癌相比差异有统计学意义（P〈0．05）。rs2241715 T／T基因型的个体患慢性乙肝和肝硬化的相对风险度分别为其他型者的2．974倍（95％CI=1．209—7．314，P=0．018）和3．228倍（95％CI=1．201—8．675，P=0．020）。rs2241716和rs4803455位点的谱式则无上述的相关性。结论：TGF-β1基因的rs2241715 SNP位点T／T基因型可能是慢性乙肝病毒感染相关疾患的易感因素。

Objective： To assess the association of three new single nucleotide polymorphism （SPN） sites of the transforming growth factor β1 （ TGF-β1 ） gene, which is prevalent in Asia, with the susceptibility to the chronic hepatitis B infection-related liver disease. Methods：The genomic DNA of 129 cases suffering from the chronic HBV peripheral blood infection（ 74 cases with chronic type B hepatitis, 41 cases with liver cirrhosis and 14 cases with liver cancer）as well as 41 healthy volunteers were prepared. The genotypes of the TGF-β1 gene at rs2241715, rs2241716 and rs4803455 sites were detected by an allotype-specific PCR method. Results：There was a significant difference in the genotypes for rs2241715 and allele frequencies between healthy volunteers and patients with chronic type B hepatitis, liver cirrhosis, and liver cancer （P 〈 0.05）. The individuals with rs2241715 T/T genotype had a 2. 974-fold increased risk for developing chronic type B hepatitis （95% CI = 1. 209-7. 314, P =0. 018） and 3. 228-fold increased risk for developing liver cirrhosis （95 % CI = 1. 201-8. 675, P = 0. 020 ）, while no significant correlation was observed in both genotypes and allele frequencies at rs2241716 and rs4803455 sites. Conclusion;The TGF-β1 rs2241715 T/T genotype; a predisposing factor for the chronic HBV infection-related diseases.