Genetics and Molecular Biology Research Unit (UPGEM), Faculdade de Medicina de São José do Rio Preto, Rio Preto, Brazil.
Mol Biol Rep. 2011 Feb;38(2):1071-8. doi: 10.1007/s11033-010-0204-1. Epub 2010 Jul 27.
Reduced folate carrier is an essential folate transporter and the A80G polymorphism in reduced folate carrier 1 gene (rs1051266) has been shown to be associated with alterations in folate metabolism and consequently cancer development. We evaluated the association of this polymorphism with head and neck squamous cell carcinoma risk in a case-control study of 322 head and neck carcinoma patients and 531 individuals without cancer in a Brazilian population and association of this polymorphism with clinical histopathological parameters, and gender and lifestyle factors. The PCR-RFLP technique was used to genotype the polymorphism and multiple logistic regression was used for comparison between the groups and for interaction between the polymorphism and risk factors and clinical histopathological parameters. We observed association between the RFC1 A80G polymorphism and the risk of this disease. Male gender, tobacco habit and RFC1 AG or GG genotypes may be predictors of this disease (P < 0.05). The genotype, 80AG or GG was associated with for >50 years, male gender and non alcohol consumption (P ≤ 0.05). The polymorphism did not show any association with the primary site, aggressiveness, lymph node involvement or extension of the tumor. In conclusion tobacco and male gender are associated with etiology of this disease and our data provide evidence that supports an association between the RFC1 A80G polymorphism and head and neck squamous cell carcinoma risk, male gender, alcohol non consumption and age over 50 years. However, further studies of folate and plasma concentrations may contribute to the better understanding of the factors involved in the head and neck squamous cell carcinoma etiology.
叶酸载体 1 基因(rs1051266)中的还原叶酸载体 A80G 多态性与叶酸代谢的改变有关,进而与癌症的发生有关。我们在巴西人群中进行了一项病例对照研究,纳入了 322 例头颈部癌患者和 531 例无癌症个体,评估了该多态性与头颈部鳞状细胞癌风险的相关性,并评估了该多态性与临床组织病理学参数以及性别和生活方式因素的相关性。我们使用 PCR-RFLP 技术对多态性进行基因分型,并使用多元逻辑回归比较组间差异,以及多态性与危险因素和临床组织病理学参数之间的交互作用。我们观察到 RFC1 A80G 多态性与该疾病的风险之间存在关联。男性、吸烟习惯以及 RFC1 AG 或 GG 基因型可能是该疾病的预测因素(P<0.05)。基因型 80AG 或 GG 与年龄>50 岁、男性和非饮酒有关(P≤0.05)。该多态性与原发部位、侵袭性、淋巴结受累或肿瘤的扩散均无相关性。综上所述,烟草和男性与该疾病的病因有关,我们的数据提供了支持 RFC1 A80G 多态性与头颈部鳞状细胞癌风险、男性、非饮酒和年龄>50 岁之间存在相关性的证据。然而,进一步研究叶酸和血浆浓度可能有助于更好地了解头颈部鳞状细胞癌病因中涉及的因素。