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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(χ~2=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erb B-2)水平等因素影响。
OBJECTIVE: To investigate the association of five folic acid metabolism-related enzyme gene polymorphisms (MTRR, rs1801394; MTR, rs1805087; MTHFR, rs1801133; FHTFD, rs2002287; FTHFD, rs2276731) with the risk and pathological features of breast cancer in Chinese women. Methods: A case-control study was conducted in which 298 women with breast cancer were selected as the case group and 298 women as the control group. Massarray was used to detect the genotypes of the five polymorphic loci. Logistic regression was used to analyze the association of different genotypes with Breast cancer and pathological features of the relationship. Results: The rs1801394 loci genotype distribution in the two groups was statistically significant (χ ~ 2 = 9.900, P = 0.007). AG genotype frequency in breast cancer (28.52%) was significantly lower than the control group (38.59%). Conclusion: The AG genotype of MTRR rs1801394 locus correlates with the occurrence of breast cancer and is affected by breast cancer pathological parameters and the expression of estrogen receptor (ER), progesterone receptor (PR) Oncogene human epidermal growth factor receptor 2 (HER2, also known as erb B-2) levels and other factors.