hMSH2基因IVS10+12G〉A多态与中国人大肠癌遗传易感性的关联研究  被引量:1

Association of IVS10+12G〉A polymorphism in hMSH2 gene with colorectal cancer in Chinese

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作  者:周建农[1] 王德强[1] 宋磊[1] 李苏平[1] 丁建华[1] 马国建[1] 陈森清[1] 张晓梅[1] 

机构地区:[1]南京医科大学附属江苏省肿瘤医院,210009

出  处:《中华医学遗传学杂志》2010年第5期579-583,共5页Chinese Journal of Medical Genetics

基  金:江苏省自然科学基金(BK2007258)

摘  要:目的了解hMSH2基因IVS10+12G〉A多态与大肠癌发病的关系。方法于江苏省淮安、泰兴及金坛3个肿瘤高发地区现场收集108例同年新发大肠癌患者、180名健康人的外周血及相应的生活饮食习惯等资料,提取外周血DNA,应用PCR变性高效液相色谱分析和DNA序列分析技术检测hMSH2基因多态,采用病例对照研究方法结合流行病学资料分析。结果hMSH2基因IVS10+12G〉A多态在中国正常人群中的等位基因频率为51.7%。大肠癌患者中IVS10+12G〉A的检出率显著高于正常对照(P〈0.05),并主要分布于家族性患者中(P〈0.05),而散发性患者与正常对照间差异无统计学意义(P〉0.05)。对混杂因素的分层分析显示,IVS10+12G〉A主要存在于低龄患者中(P=0.011),并与油炸食品和腌菜两个饮食因素显著相关(P〈0.01)。结论IVS10+12G〉A可能是中国人大肠癌的风险因素,特别是在家族性患者中有更显著的作用,但尚需大样本研究予以证实。Objective To investigate the association of the single-nucleotide polymorphism (SNP) IVS10-12 G2〉 A in hMSH2 gene with colorectal cancer in a Chinese population of Jiangsu province. Methods A case control study to investigate whether this SNP affects the risk of developing colorectal cancer was conducted. Subjects included 108 colorectal cancer patients and 180 healthy individuals. Peripheral white blood cell DNA was obtained from all subjects. The hMSH2 gene IVS10+12 G2〉A was genotyped using a PCR-based DHPLC, the existence of IVS10+12 G〉A was verified by DNA sequencing. Results The allele frequency of the IVS10--12 G〉 A in the hMSH2 gene in the healthy individuals was 51.7%. There was significant difference in the frequency of the IVS10 n-12 G;〉A between patients and healthy controls (P〈0.05), and between familial patients and healthy controls (P〈0.05). There was also significant difference of the frequency of the IVS10--12 G〉A between patients younger than 50 years, and patients with high consumption of fried food and pickled vegetable and healthy controls respectively (P〈 0.05). Conclusion This SNP may be associated with colorectal cancers in Chinese. Further investigation with larger sample size is needed.

关 键 词:结肠直肠肿瘤 HMSH2基因 多态性 

分 类 号:R686[医药卫生—骨科学]

 

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