东北地区汉族人群XPD单核苷酸多态性与结肠癌易感相关性的研究

Association of single nucleotide polymorphism in XPD with susceptibility of colon cancer in Han population from northeast region of China

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。

OBJECTIVE： To assess the relationship between XPD single nueleotide 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/Ash 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%0CI： 1.21-3.66）. CONCLUSION： The Asp312Asn polymorphisms in XPD gene are risky factors of colon cancer in Han Chinese from the northeast region.