N-乙酰化转移酶1基因分型及其与散发性大肠腺癌易感性

目的　分析N 乙酰化转移酶 1 (NAT1 )各等位基因型及其与散发性大肠腺癌 (SCRAC)易感性之间的关联。方法　应用聚合酶链反应 (PCR) 限制性片段长度多态性分析 (RFLP)及多重PCR技术 ,检测中国湖北地区汉族无血缘关系的健康人 1 0 1例、SCRAC患者 1 0 4例的NAT1基因多态性。结果　 (1 )NAT1等位基因 1 0 (NATI 1 0 )频率在SCRAC患者与健康人之间及老年SCRAC患者与健康人之间的差异均有显著性 (前者P <0 0 5 ,OR =1 91 ,95 %CI=1 1～ 3 4;后者P <0 0 1 ,OR =2 91 ,95 %CI =1 48～ 5 90 ) ;在近端或远端SCRAC与健康人之间的差异无显著性 (P >0 0 5) ;(2 )DukesⅡ期、Ⅲ和Ⅳ期分别与健康人相比 ,其NAT1 1 0的频率差异均有显著性 (前者P <0 0 5 ,OR =2 48,95 %CI=1 1 8～ 5 2 0 ;后者P <0 0 5 ,OR =3 0 4 ,95 %CI =1 2 8～ 7 2 0 )。结论　NAT1 1 0与SCRAC易感性有关 ,其患者肿瘤浸润、转移早 ,与癌灶部位无关 ;是否与老年SCRAC易感性有关尚不清楚

The research the relationship between N-acetyltransferase 1 gene polymorphisms and genetic susceptibility to sporadic colorectal adenocarcinoma

OBJECTIVE: In this study, we analyzed the association genetic polymorphisms of N-acetyltransferase 1 (NAT1) with genetic susceptibility to sporadic colorectal adenocarcinoma (SCRAC). METHODS: All subjects are unrelated Han people in Hubei province of China. Using multiple PCR and PCR-RFLP, we studied the genotypes and genetic polymorphisms of the NAT1 gene of 101 healthy controls and 104 SCRAC patients. RESULTS: (1) The frequency of NAT1 * 10 was significantly higher among the SCRAC when compared with the controls (P < 0.05, OR = 1.91, 95% CI = 1.1 - 3.4), and among the elder SCRAC when compared to the controls (P < 0.01, OR = 2.91, 95% CI = 1.48 - 5.90), (2) The frequency of NAT1 * 10 relative to SCRAC tumor location as follow: proximal SCRAC (44.4%), distal SCRAC (41.6%), all the difference were not statistically significant relative to the controls; The frequency of NAT1 * 10 genotype was significantly higher in stage II cases (P < 0.05, OR = 2.48, 95% CI = 1.18 - 5.20) and stage III and IV cases (P < 0.05, OR = 3.04, 95% CI = 1.28 - 7.20) when compared with the controls. CONCLUSIONS: NAT1 * 10 has increased risk of SCRAC and significantly related to the later stage tumors, is not significantly related to the tumor location, whether the elder individuals with NAT1 * 10 have increased risk of SCRAC needs further study.