CYP1A1*2A基因多态性与宁夏汉族乳腺癌遗传易感性研究

Study of CYP1A1 *2A Gene Polymorphism and Susceptibility to Breast Cancer in the Han Nationality in Ningxia

[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(P>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(P>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。

[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 （P〉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 （P〉 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.