Kongruttanachok N, Sukdikul S, Setavarin S, Kerekhjanarong V, Supiyaphun P, Voravud N, Poovorawan Y, Mutirangura A
Genetics unit, Department of Anatomy, National Cancer Institute, Bangkok, Thailand.
BMC Cancer. 2001;1:4. doi: 10.1186/1471-2407-1-4. Epub 2001 May 25.
Nasopharyngeal carcinoma (NPC) is a rare tumor in most parts of the world but occurs at relatively high frequency among people of Chinese descent. The cytochrome P450 2E1 enzyme (CYP2E1) is responsible for the metabolic activation of nitrosamines, and has been shown to be a susceptibility gene for NPC development in Taiwan [RR = 2.6; 95%CI = 1.2-5.7]. Since there has been only one report of this link, it was decided to investigate the susceptibility of CYP2E1 to NPC development in other populations. Therefore, the correlation between the RsaI polymorphism of this gene and NPC was studied in-patients including Thai and Chinese in Thailand. The present study comprised 217 cases diagnosed with NPC and 297 healthy controls.
Similar to the result found in Taiwanese, a homozygous uncut genotype demonstrated a higher relative risk both when all cases were analyzed [RR = 2.19; 95%CI = 0.62-8.68] or individual racial groups, Thai [RR = 1.51; 95%CI = 0.08-90.06] or Chinese [RR = 1.99; 95%CI = 0.39-10.87]. The ethnicity-adjusted odds ratio is 2.39 with 95%CI, 0.72-7.89.
Though our finding was not statistically significant due to the moderate sample size of the study, similarity to the study in Taiwan with only a slight loss in precision was demonstrated. The higher RR found for the same genotype in distinct populations confirmed that CYP2E1 is one of several NPC susceptibility genes and that the RsaI minus variant is one mutation that affects phenotype.
鼻咽癌(NPC)在世界大部分地区是一种罕见肿瘤,但在华裔人群中发病率相对较高。细胞色素P450 2E1酶(CYP2E1)负责亚硝胺的代谢激活,并且在台湾已被证明是鼻咽癌发生的一个易感基因[相对风险(RR)=2.6;95%置信区间(CI)=1.2 - 5.7]。由于仅有一篇关于此关联的报道,因此决定在其他人群中研究CYP2E1对鼻咽癌发生的易感性。因此,在泰国的泰国人和华人住院患者中研究了该基因的RsaI多态性与鼻咽癌之间的相关性。本研究包括217例确诊为鼻咽癌的病例和297例健康对照。
与在台湾发现的结果相似,无论是分析所有病例时[RR = 2.19;95%CI = 0.62 - 8.68],还是分析各个种族群体时,泰国人[RR = 1.51;95%CI = 0.08 - 90.06]或华人[RR = 1.99;95%CI = 0.39 - 10.87],纯合未切割基因型均显示出较高的相对风险。经种族调整的优势比为2.39,95%CI为0.72 - 7.89。
尽管由于本研究样本量适中,我们的发现无统计学意义,但显示出与台湾研究相似,只是精度略有损失。在不同人群中相同基因型发现的较高RR证实,CYP2E1是几个鼻咽癌易感基因之一,并且RsaI阴性变体是一种影响表型的突变。