ERα PvuⅡ、Xba Ⅰ及CYP1A1 Msp Ⅰ基因多态性联合作用与新疆维吾尔族女性乳腺癌发病相关性研究

Association of ERα PvuⅡ,XbaⅠ and CYP1A1 MspⅠ Polymorphisms with Risk of Breast Cancer in Uygur Women

[目的]探讨ERα PvuⅡ、XbaⅠ位点及CYP1A1 MspⅠ位点基因多态性与新疆维吾尔族女性乳腺癌易感性之间的相关性。[方法]应用聚合酶链反应—限制性片段长度多态性（PCR-RFLP）检测190例维吾尔族女性乳腺癌患者及194例维吾尔族健康女性的ERα PvuⅡ、XbaⅠ位点及CYP1A1 MspⅠ位点多态性,应用非条件Logistic回归分析其多态性及联合作用与新疆维吾尔族女性乳腺癌易感性的相关性。[结果]在共显性模型、显性模型、等位基因模型均未见ERα PvuⅡ位点多态性分布与乳腺癌发病风险之间的相关性;ERα XbaⅠ位点：相对xx基因型,Xx、XX、X基因携带者（Xx/XX基因型）均显著增加乳腺癌发生风险（P〈0.05）,OR值分别为5.029（95%CI：3.21-7.899）、16.500（95%CI：4.634-58.755）、5.500（95%CI：3.525-8.582）。CYP1A1 MspⅠ位点：相对于TT基因型,TC、CC、C基因携带者（TC/CC）均显著降低乳腺癌发病风险（P〈0.05）,OR值分别为0.441（95%CI：0.284-0.683）、0.462（95%CI：0.238-0.898）、0.445（95%CI：0.293-0.676）。乳腺癌患者中,ERα PvuⅡ和XbaⅠ位点及CYP1A1 MspⅠ位点多态性与ER、PR、Her-2、淋巴结转移等乳腺癌临床病理特征之间存在相关关系（P〈0.05）。ERα XbaⅠ及CYP1A1 MspⅠ两位点存在联合效应。[结论]ERα XbaⅠ位点及CYP1A1 MspⅠ位点多态性与新疆维吾尔族女性乳腺癌患者易感性相关。

[Purpose] To investigate the association of ERα Pvu Ⅱ,Xba Ⅰ and CYP1 A1 Msp Ⅰpolymorphisms with the risk of breast cancer of Uygur women in Xinjiang. [Methods] The polymorphisms of ERα PvuⅡ,XbaⅠ and CYP1 A1 MspⅠ were detected by polymerase chain reactionrestrictive fragment length polymorphism（PCR-RFLP） method in 190 Uygur women with breast cancer and 194 healthy Uygur women. The associations of polymorphisms of single site and multi-ple sites with the risk of breast cancer were analyzed by unconditioned Logistic regression. [Results] No significant association of ERα PvuⅡ polymorphism with risk of breast cancer was found in codominant model,dominant model or allele model. The risk of breast cancer was increased in women with ERα XbaⅠXx,XX or Xx/XX genotypes compared to those with ERα XbaⅠxx genotype（OR =5.029,95% CI：3.21 -7.899,P〈0.05;OR =16.500,95% CI：4.634 -58.755,P〈0.05;OR =5.500,95%CI：3.525-8.582,P〈0.05,respectively）;and decreased in women with CYP1 A1 MspⅠ TC,CC or TC/CC genotypes compared to those with CYP1 A1 Msp Ⅰ TT genotype（OR =0.441,95% CI：0.284 -0.683;P〈0.05;OR =0.462,95% CI：0.238 -0.898,P〈0.05;OR =0.445,95% CI：0.293 -0.676,P〈0.05,respectively）. Furthermore,strong associations of estrogen receptor（ER）,progesterone receptor（PR）,human epidermal growth factor receptor 2（Her-2） status,lymphatic metastasis with polymorphisms of ERα PvuⅡ,XbaⅠ and CYP1 A1 MspⅠ were observed（P〈0.05）. There might be a joint effect on the breast cancer risk between CYP1 A1 MspⅠ and ERα XbaⅠ genotypes. [Conclusion] ERα Xba Ⅰ and CYP1 A1 Msp Ⅰ polymorphisms may be related to susceptibility of breast cancer in Uygur women.