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N-乙酰基转移酶2基因多态性与膀胱癌遗传易感性关系的研究 被引量:7

Relationship between polymorphism of N-acetyltransferase 2 gene and susceptibility to bladder cancer
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摘要 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 genetic polymorphism of N-acetyltransferase 2(NAT2) and susceptibility to bladder cancer. Methods Based on case-control study,NAT2 mutation alleles (NAT2 * 5, * 6 and * 7) were determined by ASPCR and PCR-RFLP in 78 patients with bladder cancer and 80 nontumorous patients. In addtion, the relationships between the genotypes and tobacco smoking, occupational exposure, high dose intake of meat or pathological characteristic of bladder cancer patients were analyzed. Results In the blood samples from 158 cases,the 4 alleles NAT2 * 4, NAT2 * 5, NAT2 * 6 and NAT2 * 7 were detected. The frequency of NAT2 slow genotypes was 29.5% (23/78) in patients with bladder cancer,which was significantly higher compared with 16.3% (13/80) in control patients ( P 〈 0. 05 ). The frequencies of smokers and NAT2 slow genotypes among the smokers in bladder cancer patients were 58.9% and 32.6% , respectively,which were significantly higher compared with those (42.3% and 18.2% in control patients( P 〈 0. 05 ). The frequencies of patients with occupational exposure and NAT2 slow genotypes among patients with occupational exposure were 30.8% and 66.7% ,which were significantly higher compared with those ( 17.5% and 28, 6% ) in control patients ( P 〈 0, 05 ). However, there was no significant difference in patients with high dose intake of meat and NAT2 slow genotypes among patients with high dose intake of meat between bladder cancer patients (41, 8% and 40.6% ) and control patients( 33.8% and 37.0% ). It was also shown that the patients with slow NAT2 genotypes were more likely to have high grade tumor (P 〈 0.05 ) and advanced stage tumor ( P 〈 0.05 ), Conclusions Individuals with NAT2 slow genotypes have higher bladder cancer risk. Tobacco smoking and ocupational exposure may be the susceptible factors of bladder cancer. Bladder cancer patients with NAT2 slow genotypes have more malignant and invasive tumor with,unfav
出处 《中华泌尿外科杂志》 CAS CSCD 北大核心 2006年第4期231-234,共4页 Chinese Journal of Urology
基金 河南省医学创新人才基金资助项目(2004107014)
关键词 膀胱肿瘤 N-乙酰基转移酶2基因 基因多态性 Bladder neoplasms Carcinoma NAT2 gene Genetic polymorphism
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