title: Association study of the common polymorphisms in the folate-methionine pathway with retinoblastoma.
abstract: Folate and methionine metabolism enzymes could affect DNA synthesis and repair, and their methylation and polymorphisms have been associated with some forms of cancer. This study was carried out to investigate whether the MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131) and TYMS 2R/3R (rs34743033) polymorphisms are associated with susceptibility to retinoblastoma in an Iranian population.
  
  
  
  A case-control study was conducted involving 96 patients with retinoblastoma and 204 healthy controls. Genotyping of the MTHFR C677T, MTHFR A1298C, and TYMS 2R/3R polymorphism were assessed by PCR-RFLP, high resolution melting curve (HRM), and PCR methods, respectively.
  
  
  
  The frequencies of MTHFR 677CT and 677TT genotypes were significantly lower in cases than controls (p values, 0.012 and 0.034, respectively). The MTHFR 677T allele was significantly lower in patients than in the control group (p = 0.003). In contrast, no association was observed with respect to the MTHFR A1298C and TYMS 2R/3R polymorphisms.
  
  
  
  The MTHFR C677T polymorphism was associated with the risk of retinoblastoma in this Iranian population and the T allele had a protective effect on the susceptibility to retinoblastoma.
authors.affiliation: a Department of Biology , Faculty of Science, Gilan University , Rasht , Iran.
authors.forename: Elaheh
authors.initials: E
authors.lastname: Soleimani
authors.affiliation: b Reproductive Biotechnology Research Center, Avicenna Research Institute , Tehran , Iran.
authors.forename: Kioomars
authors.initials: K
authors.lastname: Saliminejad
authors.affiliation: c Department of Medical Genetics, Faculty of Medical Sciences , Tarbiat Modares University , Tehran , Iran.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.affiliation: b Reproductive Biotechnology Research Center, Avicenna Research Institute , Tehran , Iran.
authors.forename: Koorosh
authors.initials: K
authors.lastname: Kamali
authors.affiliation: b Reproductive Biotechnology Research Center, Avicenna Research Institute , Tehran , Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Ahani
mesh_terms: D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D007492:Iran; D008297:Male; D008715:Methionine / Q000378:metabolism*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D019572:Retinal Neoplasms / Q000235:genetics* / Q000378:metabolism; D012175:Retinoblastoma / Q000235:genetics* / Q000378:metabolism; D012307:Risk Factors; D020080:Tandem Repeat Sequences / Q000235:genetics; D013940:Thymidylate Synthase / Q000235:genetics
chemical_list: D005492:Folic Acid; D008715:Methionine; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C000600377:TYMS protein, human; D013940:Thymidylate Synthase
keywords: Folate; MTHFR; TYMS; methionine; polymorphism; retinoblastoma