NAT2基因多态性与大肠癌遗传易感性关系  

Association between polymorphism of NAT2 and risk of colorectal cancer

作　　者：郜文秀[1] 古小玲[2] 骆菊英 吴贵玲[1] 张桂娣[1] 张建霞 黄文波[1] 周丽珍[1] 

机构地区：[1]广东省韶关学院医学院,广东韶关512026 [2]广东韶关市粤北人民医院 [3]广东韶关市第一人民医院

出　　处：《中国公共卫生》2015年第5期645-647,共3页Chinese Journal of Public Health

基　　金：广东省医学科研基金(A2013730);广东省卫生厅资助项目

摘　　要：目的探讨N-乙酰基转移酶2（NAT2）基因多态性与大肠癌遗传易感性关系。方法运用以医院为基础的1：2配比病例对照研究和采用多重聚合酶链反应-连接酶检测（PCR-LDR）方法,对104例大肠癌病例和208例非大肠癌对照组人群NAT2基因上的3个tag SNPs位点进行基因型检测。结果各位点在对照组中的基因型分布均符合Hardy-Weinberg平衡;rs1799931位点在病例和对照组中的基因型和等位基因频数分布差异均无统计学意义（均P〉0.05）;病例组中rs1799929的T等位基因和rs1799930的A等位基因频率明显高于对照组,携带rs1799929的T等位基因和rs1799930的A等位基因是大肠癌发生的危险因素（OR=2.069、1.431,P〈0.01）;NAT2慢速基因型在病例组的频率为43.3%（45例）,对照组为26.0%（54例）,差异有统计学意义（χ2=9.381,P〈0.01）;携带NAT2慢速基因型的个体患大肠癌的风险是携带快速基因型个体的1.667倍（95%CI=1.213～2.291）。结论 NAT2基因多态性与大肠癌的易感性有关,携带慢速基因型的人群患大肠癌的风险增加。Objective To investigate genetic association between N-acetyltransferase-2（ NAT2） gene polymorphism and colorectal cancer（ CRC）. Methods A hospital-based 1： 2 matched case-control study and PCR-based ligase detection reaction（ PCR-LDR） were applied to tag single nucleotide lengh polymorphism（ SNPs） of NAT2 gene among 104 cases with colorectal cancer and 208 controls. Results The genotypic frequency of tag SNPs of NAT2 gene did not deviate from Hardy-Weinberg equilibrium in both case and control groups. Rs1799931 was not associated with colorectal cancer（ P〈0. 05）,but rs1799929 and rs1799930 were related to colorectal cancer（ P〈0. 05）. The case group had more T allele of rs1799929 and A allele of rs1799930 w hen compared to the controls; w hile T allele of rs1799929 and A allele of rs1799930 seemed to be the risk factors of colorectal cancer（ odds ratio [OR] = 2. 069,P = 0. 004; OR = 1. 431,P = 0. 004）. The frequency of NAT2 slow genotype was 43. 3% in the cases compared with 26. 0% in the controls. As compared with the NAT2 rapid genotypes,the NAT2 slow genotype significantly increased the risk of developing colorectal cancer,with an OR of 1. 667（ 95% confidence interval： 1. 213- 2. 291）. Conclusion The results suggest that NAT2 genetic polymorphism is associated with colorectal cancer susceptibility. People with NAT2 slow genotype have a higher risk of colorectal cancer.

关 键 词：大肠癌 N-乙酰基转移酶2(NAT2) 基因多态性 连接酶检测(LDR) 

分 类 号：R195.4[医药卫生—卫生统计学]