Department of Endodontics, Sri Ramachandra Dental College and Hospital, Sri Ramachandra University, Chennai, India.
Arch Oral Biol. 2012 May;57(5):513-8. doi: 10.1016/j.archoralbio.2011.10.019. Epub 2011 Dec 2.
The arylamine N-acetyltransferase 2 (NAT2) enzyme detoxifies a wide spectrum of naturally occurring xenobiotics including carcinogens and drugs. Acetylation catalysed by the NAT2 is an important process in metabolic activation of arylamines to electrophilic intermediates that initiate carcinogenesis. Polymorphism in N-acetyltransferase 2 gene was reported to be associated with the susceptibility of various cancers.
The aim of our study was to determine whether there is any association between the susceptibility to oral cancer amongst the variations of NAT2 genotypes.
This study was carried out in 157 patients with oral cancer. The control group consisted of 132 healthy volunteers. The most common polymorphisms rs1799929, rs1799930 and rs1799931 on the NAT2 gene were screened for the genotypes using TaqMan allelic discrimination.
All the three SNPs were polymorphic with minor allele frequency of 0.339, 0.372 and 0.061 for rs1799929, rs1799930 and rs1799931, respectively. None of the polymorphic site deviated from HWE in controls. There were no significant differences in genotype or allele frequencies of three SNPs between controls and cases with oral cancer. Risk of oral cancer development for the carriers of the individual deduced phenotypes was also not statistically significant. Of the 3 studied polymorphisms, 2 were in strong LD and form one haplotype block. None of the haplotype had shown significant association with the oral cancer.
Our study concludes that the NAT2 genotypes, phenotypes and haplotypes are not involved in the susceptibility to oral cancer in South Indian subjects.
芳基胺 N-乙酰基转移酶 2（NAT2）酶可解毒多种天然存在的外源性化学物质，包括致癌物和药物。由 NAT2 催化的乙酰化是芳基胺代谢活化为引发致癌作用的亲电中间体的重要过程。N-乙酰基转移酶 2 基因的多态性与各种癌症的易感性有关。
我们研究的目的是确定 NAT2 基因型的变化与口腔癌易感性之间是否存在任何关联。
本研究在 157 名口腔癌患者中进行。对照组由 132 名健康志愿者组成。使用 TaqMan 等位基因鉴别法筛选 NAT2 基因上最常见的多态性 rs1799929、rs1799930 和 rs1799931 的基因型。
所有三个 SNP 均为多态性，rs1799929、rs1799930 和 rs1799931 的次要等位基因频率分别为 0.339、0.372 和 0.061。在对照组中，没有一个多态性位点偏离 HWE。在对照组和口腔癌患者中，三个 SNP 的基因型或等位基因频率均无显著差异。个体推断表型携带者发生口腔癌的风险也无统计学意义。在所研究的 3 个多态性中，有 2 个处于强连锁不平衡状态，并形成一个单倍型块。没有一个单倍型与口腔癌有显著关联。
我们的研究表明，NAT2 基因型、表型和单倍型与印度南部人群口腔癌的易感性无关。
