N-乙酰化转移酶2基因多态与喉癌遗传易感性的研究

目的 探讨N－乙酰化转移酶2（NAT2）基因多态与喉癌遗传易感性的 关系。方法 应用聚合酶链反应－限制性片段长度多态性分析（PCR－RFLP）方法,对62例喉癌患者进行研究,测定其NAT2基因型,按吸烟指数（SI）不同,分层分析患癌风险。并与56例非肿瘤患者进行对照。结果 喉癌组慢乙酰化型基因型频率为80．6％,对照组为60．7％,两者差异有显著性（χ^2=5.70,P=0.017)。高吸烟剂量组的NAT2慢乙酰化型个体,患喉癌风险明显高于低吸烟剂量组,在比值比（OR）分别为5．64和1．38,95％可信限（95％,CI）分别为1.77-17.92和0.42-4.52。结论 NAT2慢乙酰化型个体患喉癌风险增加,在喉癌发生过程中,NAT2慢乙酰化型个体患喉癌风险增加,在喉癌发生过程中,NAT2慢乙酰化型与吸烟有协同作用。

Relationship between polymorphism of N-acetyltransferase 2 and genetic susceptibility to laryngeal carcinoma

OBJECTIVE: To investigate the relationship between polymorphism of N-acetyltransferase (NAT2) gene and genetic susceptibility to laryngeal carcinoma. METHODS: A case-control study on 62 laryngeal carcinoma patients and 56 controls was conducted. NAT2 alleles were differentiated by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) methods using originally created PCR primers and genomic DNA extracted from peripheral white blood cells. Genetic risk for NAT2 genotype was analyzed by smoking index (SI, cigarettes smoked per day x years of smoking). RESULTS: The frequency of NAT2 slow genotype was 80.6% in patients with laryngeal carcinoma and 60.7% in the controls, the difference of which was statistically significant (chi(2) = 5.70, P = 0.017). The odds ratios were 2.70 (95% CI 1.19 approximately 6.11). Among the individuals with NAT2 slow genotype at high level of cigarette smoking, there was a significantly higher risk of 5.64 (95% CI 1.77 approximately 17.92), while those at low level were considered the reference group (OR 1.38, 95% CI 0.42 approximately 4.52). CONCLUSION: NAT2 slow genotype increases the risk of susceptibility to laryngeal carcinoma. The combined effect of NAT2 slow genotype and exposure to smoking is observed during the development of laryngeal cancer.