【摘要】 背景与目的:着色性干皮病基因G(xeroderma pigmentosum group G,XPG)对维持DNA修复通路的核心结构——转录/修复因子ⅡH(transcription repair factorⅡH,TFⅡH)复合体的结构和功能的稳定起着关键作用,而单核苷酸多态性可能会影响XPG基因的功能,继而改变癌细胞的生物学行为,但XPG的His1104Asp多态性与肝细胞癌(hepatocellular carcinoma,HCC)的门静脉侵犯等的关系尚不明确。本研究分析XPG His1104Asp多态性与HCC的临床病理特征及预后的关系。方法:在191例肝癌患者中,采用限制性片段长度PCR(PCR-RFLP)方法检测XPG His1104Asp的基因型,分析各基因型与肝癌患者的TNM分期、患者生存期等指标的关系,对可能影响亚组间匹配的混杂因素如性别等因素进行校正。结果:CC基因型在T2+T3+T4组中的频率显著高于T1组中的频率(29.5%vs 12.5%,OR=1.883,P=0.007);在有门静脉侵犯组中,含C等位的基因型频率显著高于无侵犯组(70.3%vs 61.2%,校正后OR=2.320,P=0.003),但在有转移组中则显著低于无远处转移组(47.4%vs 68.7%,OR=0.309,P=0.006)。在不同原发灶大小组和数目组、不同血清AFP水平组及生存期组之间,各基因型的频率差异无统计学意义(P>0.05)。结论:XPG His1104Asp多态性与肝癌的病灶T分期较晚、门静脉癌栓形成及远处转移有显著性关联,但与患者的预后无相关性。更多还原

【Abstract】 Background and purpose:Xeroderma pigmentosum group G(XPG) was a key point of the transcription repair factor ⅡH(TFⅡH) complex in DNA repair pathway,and single nucleotide polymorphism(SNP) could have an influence on XPG and on cancer cell biological behavior.But the relationship between XPG His1104Asp polymorphism and portal vein invasion status of hepatocellular carcinoma(HCC) was still unclear.The purpose of this study was to investigate the association between the XPG His1104Asp polymorphism,clinical phenotypes and outcome of patients with HCC.Methods:Of the 191 patients with HCC,the genotypes of polymorphism were genotyped by polymerase chain reaction(PCR)-based RFLP analysis(PCR-RFLP).The correlation between the genotypes and TNM stages,overall survival(OS) of HCC were analyzed,adjusted with confounding factor,such as gender and so on.Results:C/C genotype was significantly frequently existed in T2+T3+T4 group(29.5%) compared with T1 group(12.5%)(OR=1.883,P=0.007);Meanwhile,frequency of C allele genotypes(C/C or C/G) was significant higher in portal vein invasion group(70.3%) compared with non-portal vein invasion group(61.2%)(OR=2.320,P=0.003),but was markedly fewer in metastasis group(47.4%) compared with non-metastasis group(68.7%)(OR=0.309,P=0.006).Genotype frequencies between difference size or number of mass,serum AFP levels and OS groups were not significance,respectively.Conclusion:XPG His1104Asp polymorphism was significantly associated with advanced T stage,portal vein invasion,and metastasis status,respectively,but had no association with OS of HCC.更多还原