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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 establish the relationship between high frequency heterozygous TGF-β1 SNPs in three Asian populations and susceptibility to HBV infection-related diseases. Methods: Genomic DNA was used to detect the genomic DNA of peripheral blood cells in 129 HBV-related diseases (74 cases of chronic hepatitis B, 41 cases of liver cirrhosis, 14 cases of hepatocellular carcinoma) and 41 healthy controls. Among the β1 genes, three SNPs (rs2241715, rs2241716, rs4803455) were highly heterozygous in Asian populations for genotyping. Results: The genotype and allele frequencies of rs2241715 in normal subjects were significantly different from those of chronic hepatitis B, cirrhosis and hepatocellular carcinoma (P <0.05). The relative risk of chronic hepatitis B and cirrhosis in individuals with rs2241715 T / T genotype was 2.974 times (95% CI = 1.209-7.314, P = 0.018) and 3.228 times (95% CI = 1.201-8.675 , P = 0.020). The rs2241716 and rs4803455 loci do not have the above correlations. Conclusion: The T / T genotype of rs2241715 SNP locus of TGF-β1 gene may be a predisposing factor for chronic hepatitis B virus infection-related diseases.