摘要
目的研究防御素6基因单核苷酸多态性与中国汉族大肠癌发病风险的关系。方法入选200例大肠癌患者及200例健康者,利用PCR扩增-直接测序的方法测定两组人群外周血DEFA6 rs13275170的基因型。通过实时定量PCR测定癌与癌旁组织DEFA6 mRNA的表达量,分析其与不同基因型的关系。结果 rs13275170的C/T、T/T基因型与C/C基因型比较,OR值分别为0.661(P<0.01)和1.331(P<0.05),C/T+T/T OR值为0.751(P<0.05)。DEFA6 mRNA在癌组织的表达量明显高于癌旁正常组织(P<0.01),且基因型CT/TT型的表达量明显低于CC患者(P<0.05)。结论 rs13275170的多态性与中国汉族大肠癌易感性密切相关,且CT/TT基因型发病风险较高。
Objective To investigate the association between single nucleotide polymorphisms of DEFA6 and colorectal cancer in Chinese Han population. Methods Two hundred colorectal cancer patients and 200 healthy controls were selected to determine the DEFA6 rs13275170 in peripheral blood by PCR amplification-direct sequencing method. DEFA6 mRNA levels in colorectal cancer and adjacent normal tissue were measured by real-time quantitative PCR to analyze the correlation between DEFA6 mRNA level and different genotypes. Results Compared to C/ C genotype of DEFA6 rs13275170,OR values of C/ T and T/ T genotypes were 0. 661（ P〈 0. 01） and 1. 331（ P〈 0. 05）,respectively,while that of C/ T ＋ T/ T genotype was 0. 751（ P〈 0. 05）. DEFA6 mRNA expression level in cancer tissues was significantly higher than that in adjacent normal tissues（ P〈 0. 01）,which was 8 times of the latter. DEFA6 mRNA expression level in patients with genotype CT/ TT was significantly lower than that in those with CC genotype（ P〈 0. 05）. Conclusion DEFA6 rs13275170 polymorphism is closely related to colorectal cancer in Chinese Han population,and CT/ TT genotype showed higher incidence risk.
出处
《中国卫生检验杂志》
北大核心
2014年第8期1065-1067,1088,共4页
Chinese Journal of Health Laboratory Technology
基金
浙江省医药卫生科技计划项目(2013KYB023)
关键词
大肠癌
防御素6
单核苷酸多态性
Colorectal Cancer
Human defensin 6（DEFA6）
Single nucleotide polymorphisms
