CYP1A1-2A基因多态性及宁夏汉族乳腺癌遗传易感性探究.docVIP

CYP1A1*2A基因多态性及宁夏汉族乳腺癌遗传易感性探究 　 作者：郭卫东，饶宁莲，刘春莲，赵巍，，霍正浩，彭亮，陈银涛，焦海燕 【摘要】 ［目的］ 分析宁夏汉族CYP1A1*2A基因多态性与乳腺癌遗传易感性的关系。［方法］ 应用聚合酶链反应—限制性片段长度多态性（PCR-RFLP）技术分别对144例乳腺癌患者和154例对照的CYP1A1*2A基因多态性进行测定，分析两组基因型及等位基因频率的分布特点。［结果］ CYP1A1*2A等位基因T、C在乳腺癌组和对照组分布的差异无显著性(Pgt;0.05)，其中等位基因C的乳腺癌发病风险比值比（OR）为1.34(95%CI：0.97～1.86)。CYP1A1*2A各基因型分布两组间差异也无显著性(Pgt;0.05)，杂合子突变TC、纯合子突变CC分别与野生型TT相比，乳腺癌发病风险OR分别为1.32(95%CI：0.80～2.18)和1.86(95%CI：0.92～3.78)。［结论］ CYP1A1*2A基因多态性其突变纯合子和杂合子有增加乳腺癌风险的趋势，但未达到显著水平。CYP1A1*2A基因多态性可能与宁夏汉族人群乳腺癌的发病有关系。 【关键词】 乳腺肿瘤 Study of CYP1A1 *2A Gene Polymorphism and Susceptibility to Breast Cancer in the Han Nationality in Ningxia Abstract: ［Purpose］ To investigate the association between CYP1A1 *2A gene polymorphism and its susceptibility to breast cancer in the Han nationality in Ningxia. ［Methods］ CYP1A1 *2A gene polymorphism in 144 cases with breast cancer and 154 controls were detected by PCR-RFLP. The frequencies of genotype and allele were analyzed. ［Results］ The frequencies of allele T and C showed no significant difference between the two groups (Pgt;0.05). The odds ratio (OR) of breast cancer with the allele C was 1.34(95%CI:0.97～1.86). There was no significant difference in the genotype TT, TC, CC between the two groups (Pgt;0.05) too. Compared to wild type TT, the OR of breast cancer with genotypes of heterozygote TC and homozygote CC were 1.32(95%CI: 0.80～2.18) and 1.86(95%CI: 0.92～3.78), respectively. ［Conclusion］ It is possible that the CYP1A1*2A gene polymorphism is linked with breast cancer in the Han nationality in Ningxia. Homozygote and heterozygote might increase risk for breast cancer, but without significant between breast cancer and controls. Key words: breast neoplasms; cytochrome P450 1A1*2A; gene polymorphism; Ningxia; Han population 目前已确认的乳腺癌危险因素只能解释30%～40%的发病原因[1]。除家族性乳腺癌主要与BRCA1、BRCA2有关外，散发性乳腺癌的发生可能与环境致癌物的代谢有关。个体之间的患癌差异性被称为肿瘤遗传易感性。研究表明Ⅰ相与Ⅱ相代谢酶基因多态性与个体肿瘤易感性差异有关。CYP1A1是体内重要的Ⅰ相代谢解毒酶之一，能代谢活化多种环境致癌物或致突变物[2]，国外报道显示其遗传多态性与乳腺癌的易感性有关[3]。本研究对144例乳腺癌患者和154例对照的细