title: Evidence of association between methylenetetrahydrofolate reductase gene and susceptibility to breast cancer: a candidate-gene association study in a South-eastern European population.
abstract: The methylenetetrahydrofolate reductase (MTHFR) gene has been proposed as a candidate gene for breast cancer (BC). However, the specific role of MTHFR polymorphisms and haplotypes has not been fully clarified and replicated. We examined the association of two common MTHFR polymorphisms (C677T and A1298C) and their haplotypes in a candidate-gene association study, involving 300 female patients with BC and 283 healthy women. The single locus analysis for the two polymorphisms revealed an association only for the C677T polymorphism [odds ratio (95% confidence interval), OR=2.05 (1.21-3.48)], but adjustment for age diminished this association [OR=1.76 (0.92-3.42)]. The menopausal status showed no significant effect in the association between the MTHFR polymorphisms and BC. The analysis of haplotypes showed an association for the C677-A1298 haplotypes (p=0.04). The available evidence from our study may support a contributory role of MTHFR polymorphisms in BC development. Future larger studies may help in elucidating the genetics of BC further.
authors.affiliation: Department of Medical Oncology, University of Thessaly School of Medicine, University Hospital of Larissa, 1 Panepistimiou St., Biopolis, Larissa, Greece. cpapandreou@med.uth.gr
authors.forename: Christos N
authors.initials: CN
authors.lastname: Papandreou
authors.forename: Chrysa
authors.initials: C
authors.lastname: Doxani
authors.forename: Nikos
authors.initials: N
authors.lastname: Zdoukopoulos
authors.forename: Panagiotis J
authors.initials: PJ
authors.lastname: Vlachostergios
authors.forename: Eleana
authors.initials: E
authors.lastname: Hatzidaki
authors.forename: Georgios
authors.initials: G
authors.lastname: Bakalos
authors.forename: Dimitris C
authors.initials: DC
authors.lastname: Ziogas
authors.forename: Theocharis
authors.initials: T
authors.lastname: Koufakis
authors.forename: Elias
authors.initials: E
authors.lastname: Zintzaras
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics*; D016022:Case-Control Studies; D005060:Europe; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)