Capoluongo Ettore, Almadori Giovanni, Concolino Paola, Bussu Francesco, Santonocito Concetta, Vendittelli Francesca, Galli Jacopo, Zuppi Cecilia, Ameglio Franco, Paludetti Gaetano, Giardina Bruno
Laboratory of Molecular Biology, Department of Biochemistry and Clinical Biochemistry-Catholic University, Rome, Italy.
Clin Chim Acta. 2007 Feb;376(1-2):174-8. doi: 10.1016/j.cca.2006.08.017. Epub 2006 Aug 17.
The association between head and neck squamous cell carcinoma (HNSCC) and allelic variants of glutathione S-transferase M1 (GSTM1) and -T1 (GSTT1) is currently controversial. The present study investigates the prevalences of GSTT1 and GSTM1 polymorphism in a cohort of 100 head and neck cancer patients, 100 healthy donors and 200 controls with non-neoplastic head and neck diseases from Italian Lazio Region.
The patients with benign head and neck pathologies, as well as the healthy donors were matched for age, sex, cigarette smoke (yes/no) and alcohol consumption (yes/no). Molecular definition of GSTT1 and GSTM1 genotype has been performed by means of allele-specific PCR technique.
A significant association between head and neck cancer and GSTM1 null genotype was observed both considering benign disease controls (p=0.001, OR=2.613; 95% C.I.=1.48-4.62), and healthy donors (p=0.0003, OR=3.35; 95% C.I. 1.69-6.67) while no significant association was found with GSTT1 null genotype (p>or=0.14). No interactive association was observed when combining the different genotypes of the two polymorphisms. These results were confirmed after correction for daily number of cigarettes and period of tobacco exposure.
The present study confirms a role for genetic alterations of GSTM1 detoxifying enzyme as a risk factor for the development of HNSCC in patients from the Italian Lazio Region, independently of age, sex and other confounding variables.
头颈部鳞状细胞癌（HNSCC）与谷胱甘肽S-转移酶M1（GSTM1）和-T1（GSTT1）的等位基因变异之间的关联目前存在争议。本研究调查了意大利拉齐奥地区100名头颈部癌症患者、100名健康供体和200名患有非肿瘤性头颈部疾病的对照人群中GSTT1和GSTM1多态性的发生率。
将患有良性头颈部疾病的患者以及健康供体按照年龄、性别、吸烟情况（是/否）和饮酒情况（是/否）进行匹配。通过等位基因特异性PCR技术对GSTT1和GSTM1基因型进行分子定义。
在考虑良性疾病对照人群（p = 0.001，OR = 2.613；95%置信区间= 1.48 - 4.62）和健康供体时（p = 0.0003，OR = 3.35；95%置信区间1.69 - 6.67），均观察到头颈部癌症与GSTM1无效基因型之间存在显著关联，而与GSTT1无效基因型未发现显著关联（p≥0.14）。当合并两种多态性的不同基因型时，未观察到交互关联。在校正每日吸烟量和烟草暴露时间后，这些结果得到了证实。
本研究证实，在意大利拉齐奥地区的患者中，GSTM1解毒酶的基因改变作为头颈部鳞状细胞癌发生的危险因素发挥作用，且独立于年龄、性别和其他混杂变量。
