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目的探讨N-乙酰基转移酶2(NAT2)基因多态性与膀胱癌遗传易感性的关系。方法以病例对照研究方法,应用等位基因特异性聚合酶链反应(ASPCR)和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,分别检测78例膀胱癌患者和80例非肿瘤患者外周静脉血中NAT2的3种突变等位基因(NAT2*5,NAT2*6和NAT2*7)。并对患者的基因型与吸烟、职业暴露、嗜食熟肉状况和膀胱癌病理特征的相互关系进行统计分析。结果158例标本中,共检测到NAT2*4,NAT2*5,NAT2*6和NAT2*7四种NAT2等位基因。膀胱癌组中NAT2慢基因型分布频率(29.5%)显著高于对照组(16.3%,P<0.05);膀胱癌组吸烟人群分布及吸烟人群NAT2慢基因型分布频率分别为58.9%和32.6%,均显著高于对照组(42.3%和18.2%,P<0.05);膀胱癌组职业暴露人群分布及职业暴露人群NAT2慢基因型分布频率分别为30.8%和66.7%,均显著高于对照组(17.5%和28.6%,P<0.05);膀胱癌组嗜食熟肉人群分布及嗜食熟肉人群NAT2慢基因型分布频率分别为41.8%和40.6%,与对照组(33.8%和37.0%)之间的差异无统计学意义;膀胱癌组NAT2慢基因型与膀胱癌组织分级呈显著相关性,G2、G3肿瘤患者的慢基因型频率(61.5%)高于G1患者(23.1%,P<0.05)。结论携带NAT2慢基因型人群患膀胱癌的风险性增加,NAT2慢基因型与吸烟、职业暴露因素交互作用使患膀胱癌的风险性增加,携带NAT2慢基因型的膀胱癌患者肿瘤恶性程度较高、浸润性强,预后不良。
Objective To investigate the relationship between polymorphism of N-acetyltransferase 2 (NAT2) gene and genetic susceptibility to bladder cancer. Methods A case-control study was conducted in 78 patients with bladder cancer and 80 patients with bladder cancer using allele-specific polymerase chain reaction (ASPCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Three kinds of mutant alleles of NAT2 in peripheral blood of non - tumor patients (NAT2 * 5, NAT2 * 6 and NAT2 * 7). Statistical analyzes were performed on the correlations between genotypes and smoking, occupational exposure, delirium, and pathological features of bladder cancer. Results Of the 158 samples, four NAT2 alleles were detected, including NAT2 * 4, NAT2 * 5, NAT2 * 6 and NAT2 * 7. The distribution frequency of NAT2 (29.5%) in bladder cancer group was significantly higher than that in control group (16.3%, P <0.05). Distribution of smoking population and NAT2 slow genotype in smoking group were 58.9% and 32.6% , Which were significantly higher than those in the control group (42.3% vs 18.2%, P <0.05). The distribution of occupational exposure in the bladder cancer group and the genotype distribution of NAT2 in the exposed group were 30.8% and 66.7%, respectively, which were significantly higher than those in the control group (17.5% vs 28.6%, P <0.05). The frequencies of NAT2 genotype distribution in the bladder cancer group and those in the delirium group were 41.8% and 40.6%, respectively, which were significantly lower than those in the control group (33.8% and 37.0%) There was no significant difference between the two groups (P> 0.05). The slow genotype of NAT2 in bladder cancer was significantly correlated with the grade of bladder cancer. The genotype frequencies of slow genotype (61.5%) in patients with G2 and G3 tumors were significantly higher than those in patients with G1 (23.1%, P <0.05) ). Conclusion The risk of bladder cancer is increased in patients with NAT2 slow genotype, and the interaction between slow NAT2 genotypes and smoking and occupational exposure factors may increase the risk of bladder cancer. Patients with bladder cancer carrying NAT2 slow genotype have a higher degree of malignancy , Invasive, poor prognosis.