title: Analysis of CYP1A1 and COMT polymorphisms in women with cervical cancer.
abstract: The aim of this case-control study was to obtain a comprehensive panel of genetic polymorphisms present only in genes (cytochrome P-450 1A1--CYP1A1 and catechol-O-methyl transferase--COMT) within the metabolic pathway of sex steroids and determine their possible associations with the presence or absence of cervical cancer. Genotypes of 222 women were analyzed: a) 81 with cancer of the cervix treated at the Cancer Hospital Alfredo Abram, between June 2012 and May 2013, with diagnosis confirmed surgically and/or through histomorphological examination; and b) 141 healthy women who assisted at the Endocrine Gynecology and Climacteric Ambulatory, Department of Gynecology, UNIFESP-EPM. These polymorphisms were detected by polymerase chain reaction amplification-restriction fragment length polymorphism analysis and visualized on 3% agarose gels stained with ethidium bromide. We found a significant association between the frequency of the CYP1A1 polymorphism and the development of cervical cancer. A statistical difference was observed between patient and control groups for CYP1A1 polymorphism genotype distributions (P < 0.05). However, no significant differences were found in the COMT gene polymorphism genotype distributions between the patient and control groups (P > 0.05) or between other risk variables analyzed. The CYP1A1 gene involved in the metabolic pathway of sex steroids might influence the emergence of pathological conditions such as cervical cancer in women who carry a mutated allele, and result in 1.80 and 13.46 times increased risk for women with heterozygous or homozygous mutated genotypes, respectively.
authors.affiliation: Laboratório de Ginecologia Molecular, Departamento de Ginecologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: J P
authors.initials: JP
authors.lastname: Kleine
authors.affiliation: Laboratório de Ginecologia Molecular, Departamento de Ginecologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.|Departamento de Otorrinolaringologia e Cirurgia de Cabeça e Pescoço, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: C M
authors.initials: CM
authors.lastname: Camargo-Kosugi
authors.affiliation: Laboratório de Ginecologia Molecular, Departamento de Ginecologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: C V
authors.initials: CV
authors.lastname: Carvalho
authors.affiliation: Hospital do Câncer Alfredo Abrão, Campo Grande, MS, Brasil.|Departamento de Cirurgia, Universidade Federal do Mato Grosso do Sul, Campo Grande, MS, Brasil.
authors.forename: F C
authors.initials: FC
authors.lastname: Silva
authors.affiliation: Laboratório de Ginecologia Molecular, Departamento de Ginecologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil.|Centro Oncológico de Pesquisa Molecular, Barretos Câncer Hospital, Pio XII Foundation, Barretos, SP, Brasil.
authors.forename: I D C G
authors.initials: ID
authors.lastname: Silva
mesh_terms: D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D019363:Cytochrome P-450 CYP1A1 / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D002583:Uterine Cervical Neoplasms / Q000235:genetics*
chemical_list: C569463:CYP1A1 protein, human; D019363:Cytochrome P-450 CYP1A1; C588010:COMT protein, human; D002394:Catechol O-Methyltransferase