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[目的]研究NAT2基因多态性与乳腺癌易感性的关系。[方法]采用1︰1配对病例-对照研究,对山东地区100例乳腺癌患者和100例健康对照者采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP),检测NAT2基因多态性,分析NAT2基因多态性与乳腺癌易感性之间的关系。[结果]携带NAT2*5B等位基因者患乳腺癌危险性增加(OR=2.38,95%CI=1.54～3.67);慢基因型者患乳腺癌的危险性是快基因型者2.28倍(OR=2.28,95%CI=1.12～4.63);是中间基因型者2.14倍(OR=2.14,95%CI=1.08～4.24);慢型乙酰化患乳腺癌的危险性是快型乙酰化的2.11倍(OR=2.11,95%CI=1.15～3.88)。[结论]NAT2基因多态性在乳腺癌的遗传发病机制中起重要作用,携带NAT2*5B等位基因、慢基因型及慢型乙酰化能增加患乳腺癌的易感性。
[Objective] To study the relationship between NAT2 gene polymorphism and breast cancer susceptibility. [Method] A 1: 1 matched case-control study was conducted to detect the expression of NAT2 gene in 100 breast cancer patients and 100 healthy controls in Shandong Province by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Polymorphism, analyze the relationship between NAT2 gene polymorphism and breast cancer susceptibility. [Results] The risk of breast cancer in patients with NAT2 * 5B allele increased (OR = 2.38, 95% CI = 1.54-3.67). The risk of breast cancer in patients with slow genotype was 2.28 times faster = 2.28, 95% CI = 1.12 ~ 4.63); 2.14 times that of the intermediate genotype (OR = 2.14, 95% CI = 1.08 ~ 4.24); the risk of chronic acetylation of breast cancer was 2.11 Times (OR = 2.11, 95% CI = 1.15 ~ 3.88). [Conclusion] NAT2 gene polymorphism plays an important role in the genetic pathogenesis of breast cancer. Carrying NAT2 * 5B allele, slow genotype and slow acetylation can increase the susceptibility to breast cancer.