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目的研究肿瘤坏死因子-α(TNF-α)启动子区-863C/A位点单核苷酸多态性(SNP)与慢性乙型肝炎(CHB)易感相关性。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对142例慢性乙型肝炎患者(CHB组)和150名健康者(HC组)的TNF-α基因启动子区-863C/A位点单核苷酸多态性进行基因分型,以肝功能指标(ALT、AST、TBIL、GGT、ALB)、乙型肝炎E抗原(HBe Ag)、HBV-DNA及其病毒载量、HBV-LP、HBV-Pre S1作为检测指标。结果 CHB组与HC组比较,TNF-α-863位点CA&AA基因型组间频率分布差异有统计学意义(χ2=4.222,P=0.040),等位基因A与CHB易感相关(OR=1.641,OR 95%CI=1.022~2.636);TNF-α-863C/A多态性与ALT、AST、HBe Ag、HBV-DNA、HBV-LP、HBV-Pre S1阳性率无统计学关联(P>0.05);等位基因A与C比较,HBV-DNA病毒载量在104~105时,频率差异具有统计学意义(χ2=5.558,P=0.018)。结论 TNF-α基因启动子-863C/A位点SNP与CHB易感相关,等位基因A可能是HBV的易感基因。
Objective To investigate the association of single nucleotide polymorphism (SNP) at -863C / A site of TNF-α promoter with susceptibility to chronic hepatitis B (CHB). Methods The promoter region of TNF-α gene in 142 CHB patients and 150 healthy volunteers (HC group) was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 863C / A single nucleotide polymorphisms were genotyped, with liver function indicators (ALT, AST, TBIL, GGT, ALB), hepatitis B virus E antigen (HBeAg), HBV-DNA and its viral load HBV-LP, HBV-Pre S1 as detection index. Results The frequency distribution of CA & AA genotype in TNF-α-863 group was significantly different between CHB group and HC group (χ2 = 4.222, P = 0.040), and allele A was associated with CHB susceptibility (OR = 1.641 , OR 95% CI = 1.022-2.636). The positive rate of TNF-α-863C / A was not correlated with the levels of ALT, AST, HBeAg, HBV DNA, 0.05). There was significant difference in frequency of HBV-DNA viral load between 104 and 105 when allele A was compared with C (χ2 = 5.558, P = 0.018). Conclusion SNP at -863C / A of TNF-α gene promoter is associated with CHB susceptibility. Allele A may be a susceptible gene of HBV.