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目的探讨广西地区人群DNA修复途径基因XRCC1、APE1、hOGG1、XPC、XPD、XPG、XRCC3多态性与肝癌临床病理特征的关系。方法收集2007年2月～2008年10月在广西医科大学第一附属医院就诊和治疗的共257例广西肝癌新发病例临床病理资料、血液DNA,应用荧光定量聚合酶链式反应(real-time fluorescent quantita-tive polymerase chain reaction,RT-PCR)技术对XPC499、XPC939、XPD312、XPG1104、XRCC1-194、XRCC1-280、XRCC1-399、APE1-148、hOGG1-326、XRCC3-241 10个位点进行基因分型。基因多态性与临床病理特征的关系采用2检验和非条件Logistic回归模型进行分析。结果 XRCC1-399多态与肝癌门静脉癌栓相关(P=0.036),hOOG1-326多态与包膜侵犯相关(P=0.036),XPC499多态与大体分型相关(P=0.047)。分层分析显示,在发病年龄<47岁组,XPD312基因多态与肿瘤个数有关(P=0.025)。在发病年龄≥47岁组,XPD312多态与肿瘤直径大小相关(P=0.009),XRCC1-280多态与门静脉癌栓(P=0.024)、病理分期(P=0.050)相关;不同修复途径基因多态联合作用基因型分布频率与肝癌子灶差异有统计学意义(P=0.037)。APE1-148、XPC939、XPG1104、XRCC3-241位点多态性与原发性肝癌(primary liver cancer,PLC)临床病理特征差异均无统计学意义(均有P>0.05)。结论 XRCC1-280、XRCC1-399、hOGG1-326和XPC499、XPD312基因多态性可能与肝癌相关生物学行为相关。
Objective To investigate the relationship between DNA repair pathway genes XRCC1, APE1, hOGG1, XPC, XPD, XPG and XRCC3 polymorphisms and the clinicopathological features of hepatocellular carcinoma in Guangxi. Methods A total of 257 newly diagnosed cases of hepatocellular carcinoma in Guangxi province were collected from February 2007 to October 2008 in the First Affiliated Hospital of Guangxi Medical University for clinical and pathological data and blood DNA. Real-time fluorescence quantitative polymerase chain reaction 10 sites of XPC499, XPC939, XPD312, XPG1104, XRCC1-194, XRCC1-280, XRCC1-399, APE1-148, hOGG1-326 and XRCC3-241 were performed using a fluorescence quantitative polymerase chain reaction (RT-PCR) Genotyping. The relationship between gene polymorphism and clinicopathological features was analyzed by 2 test and non-conditional logistic regression model. Results The polymorphisms of XRCC1-399 were associated with tumor thrombi in hepatocellular carcinoma (P = 0.036). The hOOG1-326 polymorphism was associated with envelope invasion (P = 0.036). The polymorphism of XPC499 was associated with general classification (P = 0.047). Hierarchical analysis showed that the XPD312 gene polymorphism was associated with the number of tumors (P = 0.025) at the age of onset <47 years. The XPD312 polymorphism was associated with tumor size (P = 0.009), XRCC1-280 polymorphism and portal vein tumor thrombus (P = 0.024), pathological stage (P = 0.050) Polymorphism combined genotype distribution frequency and liver cancer foci difference was statistically significant (P = 0.037). There were no significant differences in the clinicopathological characteristics of APE1-148, XPC939, XPG1104 and XRCC3-241 loci and primary liver cancer (all P> 0.05). Conclusion The polymorphisms of XRCC1-280, XRCC1-399, hOGG1-326, XPC499 and XPD312 may be related to the biological behavior of hepatocellular carcinoma.