文章摘要
陶世龙,王 欢,何帮顺,徐 勇,朱 锋.叶酸代谢相关酶单核苷酸基因多态性与乳腺癌的相关性研究[J].南京医科大学学报,2016,(4):473~478
叶酸代谢相关酶单核苷酸基因多态性与乳腺癌的相关性研究
Association of single nucleotide polymorphisms of folate metabolism—related enzyme gene and risk of breast cancer
投稿时间:2015-05-21  
DOI:10.7655/NYDXBNS20160420
中文关键词: 乳腺癌  叶酸代谢相关酶基因  单核苷酸多态性
英文关键词: breast cancer  folate metabolism—related enzyme gene  single nucleotide polymorphism
基金项目:南京市卫生局医学科技发展基金(20150147)
作者单位
陶世龙 南京市江宁区疾病预防控制中心,江苏 南京 211100 
王 欢 南京医科大学附属江宁医院检验科,江苏 南京 211100 
何帮顺 南京医科大学附属南京医院中心实验室,江苏 南京 210006 
徐 勇 南京医科大学附属江宁医院检验科,江苏 南京 211100 
朱 锋 南京医科大学附属江宁医院检验科,江苏 南京 211100 
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中文摘要:
      目的:探讨5个叶酸代谢相关酶基因多态性位点(MTRR,rs1801394;MTR,rs1805087;MTHFR,rs1801133;FHTFD,rs2002287;FTHFD,rs2276731)与中国女性乳腺癌发病风险及病理特征的相关性。方法:采用病例对照研究,选取298例女性乳腺癌患者为病例组及298例正常女性为对照组,采用Massarray技术检测5个多态性位点的基因型,采用Logistic回归法分析不同基因型与乳腺癌发生及病理特征的关系。结果:rs1801394位点的各基因型在2组中分布差异有统计学意义(χ2= 9.900,P=0.007)。AG基因型在乳腺癌组中的频率(28.52%)显著低于对照组(38.59%)。结论:MTRR rs1801394位点AG基因型与乳腺癌的发生相关,且受乳腺癌病理参数和肿瘤组织标本中雌激素受体(estrogen receptor,ER)?孕激素受体(progesterone receptor,PR)及原癌基因人类表皮生长因子受体2(human epidermalgrowth factor receptor-2,HER2,也称erbB-2)水平等因素影响。
英文摘要:
      Objective:To investigate the relationship between the polymorphisms of folate metabolism—related enzyme genes(MTRR,rs1801394; MTR,rs1805087; MTHFR, rs1801133; FHTFD,rs2002287; FTHFD,rs2276731)and the risk and pathologic characteristics of breast cancer in Chinese women. Methods:This case-control study included 298 female patients with breast cancer and 298 healthy female controls. Sequenom MassArray was applied to detect the genotypes of the polymorphisms,and logistic regression was utilized to analyze their association with the risk and pathologic characteristics of breast cancer. Results:Significant differences were found in the frequencies of the rs1801394(χ2=9.900,P=0.007)between the case and control groups. The frequencies of AG genotypes were obviously lower in the control s(28.52%)than those in the cases (38.59%). Conclusion:The genotype of rs1801394 AG was associated with breast cancer risk,which was independ to the pathologic characteristics of tumor and of the level of estrogen receptor(ER),progesterone receptor(PR)and human epidermalgrowth factor receptor-2(HER2 and erbB-2).
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