转化生长因子-β_1基因L10P多态与结直肠癌遗传易感性的相关性  

L10P polymorphism of transforming growth factor-beta 1 gene and genetic susceptibility to colorectal cancer

作　　者：吴慧民[1] 范跃祖[1] 刘文方[1] 何向蕾 朱冠山 王爱忠[4] 

机构地区：[1]同济大学附属同济医院普外科,上海200065 [2]宁波市李惠利医院病理科 [3]阿斯利康中国创新中心 [4]解放军第一一三医院病理科

出　　处：《上海医学》2009年第10期885-887,共3页Shanghai Medical Journal

基　　金：国家自然科学基金(30470791);南京军区医学科学技术研究"十一五"计划(06MA27)资助项目

摘　　要：目的探讨转化生长因子(TGF)-β1基因L10P多态与结直肠癌(CRC)遗传易感性的关系。方法采用Taq Man方法检测345例CRC患者及670名对照者的TGF-β1L10P基因型的分布。结果两组间TGF-β1L10P基因型分布的差异无统计学意义(P=0.213)。TNM分层分析结果显示,P是TNMⅠ～Ⅱ期CRC发病风险的遗传保护因子,与LL纯合子相比,LP杂合子的CRC发病风险显著降低至0.65(95%CI为0.44～0.95,P=0.027),PP纯合子的CRC发病风险显著降低至0.47(95%CI为0.28～0.78,P=0.004);将LP和PP基因型合并计算,则其CRC发病风险与LL基因型相比,降低至0.59(95%CI为0.41～0.85,P=0.005)。结论TGF-β1基因L10P多态可能是中国人群TNMⅠ～Ⅱ期CRC发病风险的一个遗传保护因素。Objective To investigate the association of the L10P polymorphism of transforming growth factor-beta 1 （TGF-β1） gene and the genetic susceptibility to colorectal cancer （CRC） in a Chinese population. Methods The TGF-β1 L10P genotypes were determined by using the real-time PCR with TaqMan assay in 345 CRC patients and 670 sex-, age-matched controls. Odds ratios （ORs） for CRC and 95 % confidence intervals （CIs） from unconditional logistic regression models were used to evaluate relative risks. Potential CRC risk factors, including sex, age, cigarette smoking, alcohol drinking, body mass index （BMI） and family history of colorectal cancer were included in the logistic regression models as a covariate in the multivariate analyses on genotype and CRC risk. Results The distribution of TGF-β1 L10P genotypes was not significantly different between the two groups （ P = 0. 213）. However, the P allele was significantly associated with a decreased risk for TNM stage I -- II CRC as compared to the L allele. Compared with LL genotype, LP, PP and P-allele carriers （LP or PP genotypes） had a 0.65-fold （95% CI：0.44 0.95, P=0.027）, a 0.47-fold （95% CI： 0.28--0.78, P= 0.004）, and a 0.59-fold （95% CI： 0.41--0.85, P=0.005） decrease in risk of TNM stage I--II CRC, respectively. Conclusion The L10P polymorphism of the TGF-β1 gene may has a protective effect against TNM stage I--II CRC in Chinese population. （Shanghai Med J, 2009, 32： 885-887）

关 键 词：结直肠癌 转化生长因子-Β1 基因多态 遗传易感性 

分 类 号：R735.3[医药卫生—肿瘤]