【摘要】 目的:研究核苷酸切除修复基因XPD单核苷酸多态性与东北地区汉族人群结肠癌风险的关系。方法:以聚合酶链反应-限制性片段长度多态性方法分析170例结肠癌患者标本XPD基因Asp312Asn和Lys751Gln多态性,比较不同基因型与结肠癌风险的关系。结果:Lys751Gln多态在结肠癌患者中的分布和正常对照组差异无统计学意义,与结肠癌风险无关。结肠癌患者中Asp/Asn和Asn/Asn基因型频率明显高于正常对照组,P=0.016;与携带312Asp/Asp基因型者比较,携带至少1个312Asn等位基因者(即Asp/Asn和Asn/Asn基因型)罹患结肠癌的风险增加2.11倍(95%CI:1.21～3.66)。结论:XPD基因Asp312Asn多态是东北地区汉族人群结肠癌遗传易感因素。更多还原

【Abstract】 OBJECTIVE:To assess the relationship between XPD single nucleotide polymorphism(SNP)and susceptibility to conlon cancer in Han population from the northeast region of China via a hospital-based,case-control study.METHODS:Polymerase chain reaction-restriction fragment length polymorphism analysis was used to determine the Asp312Asn and Lys751Gln polymorphisms of XPD gene in 170 patients with colon cancer.RESULTS:The polymorphism of Lys751Gln was not significantly different between the colon cancer patients and normal controls.The frequency of Asp/Asn and Asn/Asn genotypes in colon cancer was significantly increased as compared with that in the controls(P=0.016).The individuals carrying at least one 312Asn variant allele(Asp/Asn and Asn/Asn genotypes)tended to have an increased risk(2.11 times)for colon cancer as compared with those with the Asp/Asp genotype(OR=2.11,95%CI:1.21-3.66).CONCLUSION:The Asp312Asn polymorphisms in XPD gene are risky factors of colon cancer in Han Chinese from the northeast region.更多还原