A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population

• Published in: Molecular biology reports 2011-02, Vol.38 (2), p.1071-1078
• Main Authors: Galbiatti, Ana Lívia Silva, Ruiz, Mariangela Torreglosa, Rezende Pinto, Daniela, Raposo, Luiz Sérgio, Maníglia, José Victor, Pavarino-Bertelli, Erika Cristina, Goloni-Bertollo, Eny Maria
• Format: Article
• Language: English
• Subjects: Age; Aged; aggression; Alcohol Drinking; alcohols; Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; Brazil; carcinogenesis; carcinoma; Carcinoma, Squamous Cell - ethnology; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - metabolism; Case-Control Studies; Ethanol; Etiology; Female; Folate metabolism; Folic acid; folic acid transporters; Gene polymorphism; Genes; genotype; Genotype & phenotype; Head & neck cancer; Head and neck cancer; Head and Neck Neoplasms - ethnology; Head and Neck Neoplasms - genetics; Head and Neck Neoplasms - metabolism; Head and neck squamous cell carcinoma; Histology; histopathology; Humans; Life Sciences; lifestyle; Lymph nodes; Lymphatic Metastasis; Male; males; Metabolism; Middle Aged; Molecular biology; Morphology; neck; Polymerase chain reaction; Polymorphism; Polymorphism, Genetic; Regression Analysis; Replication Protein C - genetics; Restriction fragment length polymorphism; RFC1 gene; risk; Risk factors; Smoking - adverse effects; squamous cell carcinoma; Tobacco; Tumors; vitamin metabolism
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-010-0204-1

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 comparation 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.