测序法研究XRCC1基因单核苷酸多态性与结直肠癌遗传易感性的相关性  

Correlation of single nucleotide polymorphisms of X-ray repair cross complementing group 1gene to hereditary susceptibility of colorectal cancer

作　　者：杨晓东[1] 邢春根[1] 赵奎[1] 龚巍[1] 吴永友[1] 吴勇[1] 钟丰云[1] 何腾飞[1] 

机构地区：[1]苏州大学附属第二医院普通外科,215004

出　　处：《中华胃肠外科杂志》2013年第12期1195-1198,共4页Chinese Journal of Gastrointestinal Surgery

基　　金：基金项目：苏州市社会发展科技计划项目（SS0834）

摘　　要：目的探讨x线交叉互补基因1（XRCCl）单核苷酸多态性（SNP）与结直肠癌遗传易感性的相关性。方法采用SNaPshotSNP分型技术方法，对136例结直肠癌病例（病例组）和214例成组匹配的正常体检者（对照组）外周血中的XRCCl基因的rs25487、rs25489和rs1799782等3个SNP位点进行分型，针对每个位点分析共显性、显性、隐性、超显性和叠加作用5种不同的遗传模型。分析XRCCl不同基因型与结直肠癌发生风险的相关性。结果XRCCl基因3个SNP位点25487G／A、25489C／T及1799782C／T变异等位基因在病例组的频率分别为0．20、0．11和0．32。对照组分别为0．23、0．13和0．34。单倍型分析显示。GCT、GCC、ACC和GTC为最常见的4种单倍型，其OR值分别为1、1．35、0．90和0．84，病例组与对照组单倍型的分布差异无统计学意义（P〉0．05）。单位点分析结果显示，在5种不同的遗传模型中，3个SNP位点的基因型均与结直肠癌发生风险无相关性（P〉0．05）。结论XRCCl基因的3个SNP位点（rs25487、rs25489、rsl799782）均与结直肠癌的发生无明显相关性。Objective To investigate the correlation of single nucleotide polymorphisms （SNP） of XRCC1 gene to hereditary susceptibility of colorectal cancer. Methods XRCC1 genotypes in 124 colorectal cancer patients and 214 matched healthy people as control were analyzed by SnaP Shot SNP- typing technique. Five different inheritance models including codominant, dominant, recessive, overdominant and log-additive were analyzed using logistic regression model. The haplotype distribution was estimated with phase and its correlation with the risk of colorectal cancer was evaluated. Results The frequencies of mutant 25487G-A, 25489C-T and 1799782C-T alleles were 0.20, 0.11, 0.32 respectively in the patients, and 0.23, 0.13, 0.34 in the controls. There was no significant correlation of poiymophisms of XRCC1 gene to the risk of colorectal cancer in 5 different inheritance models （P〉0.05）. GCT, GCC, ACC and GTC were the most common haplotypes and the odds ratios were 1, 1.35, 0.90 and 0.84 respectively. There was no significant difference of distribution between 2 groups in haplotypes. Conclusion Polymorphisms of XRCC1 gene, including rs25487, rs25489, rs1799782, are not associated with to the risk of colorectal cancer.

关 键 词：结直肠肿瘤 X线交叉互补基因1 单核苷酸多态性 遗传易感性 

分 类 号：R735.3[医药卫生—肿瘤]