N-乙酰基转移酶2基因多态性与结肠腺癌易感性的关系  

Association between N-acetyltransferase 2 gene polynmrphisms and genetic susceptibility to sporadic colorectal adenocarcinoma

作　　者：蒋益[1] 夏冰[2] 薛战雄[1] 郑君杰[1] 孙来芳[1] 郑波[1] 

机构地区：[1]温州医学院附属第二医院消化科,325000 [2]武汉大学中南医院内科消化系疾病研究中心

出　　处：《中华消化杂志》2007年第1期15-18,共4页Chinese Journal of Digestion

摘　　要：目的探讨N-乙酰基转移酶2（NAT2）基因多态性与结肠腺癌遗传易感性的相关性。方法采用聚合酶链反应-限制性片断长度多态性（PCR—RELP）方法，检测168例结肠腺癌患者及204例健康对照者NAT2基因型和等位基因频率，分析正常人与结肠腺癌患者NAT2各等位基因频率及基因型频率的差异。结果在正常人及结肠腺癌患者中，NAT2各等位基因频率分布差异无统计学意义（P〉0．05）。但与正常对照组相比，结肠腺癌患者中慢型乙酰化基因型频率增高（42．8％比33．7％，P=0．033，OR=1．576，95％CI：1．037～2．396）。根据不同临床特征分析，慢型乙酰化基因型频率在不同年龄结肠癌患者中差异无统计学意义（P〉0．05），但在远侧结肠癌（P=0．022，OR=2．305，95％CI：1．116～4．763）、DukesC期（P=0．025，OR=2．065，95％CI：1．089～3．912）、低分化（P=0．031，OR=2．128，95％CI：1．065～4．251）患者中明显增高。结论NAT2慢型乙酰化基因型与结肠腺癌及与肿瘤部位、Dukes分期及分化程度显著相关。Objective To investigate the association between N-acetyltransferase 2 （NAT2） gene polymorphism and genetic susceptibility to sporadic colorectal adenocarcinoma. Methods Using validated polymerase chain reaction restriction fragment length polymorphism assay , 168 patients with colorectal adenocarcinoma and 204 healthy subjects as control were studied for NAT2 genotype and allele frequencies. Results The statistically significant differences were not detected in frequency of NAT2 alleles between patients with sporadic colorectal adenocarcinoma and healthy controls. But the frequency of slow acetylator genotype was increased significantly in patients with colorectal adenocarcinoma compared with controls （42. 8% vs 33. 7%, P = 0.033, OR = 1. 576, 95% CI： 1. 037-2. 396）. Furthermore, a positive association was found in frequency of slow acetylator genotype and distal colorectal adenocarcinoma （P =0.022, OR = 2. 305, 95%CI：1. 116-4. 763）,Dukes C classification （ P = 0.025, OR = 2.065, 95%CI： 1. 089-3. 912） and poor differentiation （ P = 0. 031, OR = 2. 128, 95% CI：1. 065-4. 251）. Conclusion The NAT2 slow acetylator genotype was significantly associated with sporadic colorectal adenocarcinoma and its subgroups.

关 键 词：结肠癌 乙酰基转移酶 基因多态性 遗传学 

分 类 号：R686[医药卫生—骨科学]