title: Methionine synthase A2756G variation is associated with the risk of retinoblastoma in Iranian children.
abstract: Association of epigenetic modifications with cancer has been widely studied. Gene-specific hypermethylation and global DNA hypomethylation are the most frequently observed patterns in great number of tumors. The methionine synthase (MTR) gene plays key role in maintaining adequate intracellular folate, methionine and normal homocysteine concentrations and, its polymorphism have been associated with the risk of retinoblastoma and other neoplasms. We evaluated the association of MTR A2756G polymorphism with the risk of retinoblastoma in an Iranian population. Totally, 150 retinoblastoma patients and 300 individuals with no family history of cancer as control were included in this study. Genotyping of the A2756G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) using the restriction enzymes HaeIII. Our results showed that the "G" was the minor allele with a frequency of 31.7% and 20.3% in both retinoblastoma and control groups, respectively. The frequency of the 2756GG genotype (P=0.023) and 2756G allele (P=0.0001) were significantly higher in the patients than control group, respectively. Individual with the 2756GG genotype had a 2.99 fold increased risk for retinoblastoma. According to our results, the MTR A2756G polymorphism was associated with the risk of retinoblastoma in Iranian patients.
authors.affiliation: Department of Medical Genetics, Faculty of Medical sciences, Tarbiat Modares University, Tehran, Iran. Electronic address: mtakbari@modares.ac.ir.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.affiliation: Stem Cell Preparation Unit, Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Asieh
authors.initials: A
authors.lastname: Naderi
authors.affiliation: Science and Research Branch, Islamic Azad University, Tehran, Iran. Electronic address: Saye83@yahoo.com.
authors.forename: Leila
authors.initials: L
authors.lastname: Saremi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Arezou
authors.initials: A
authors.lastname: Sayad
authors.affiliation: Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Shiva
authors.initials: S
authors.lastname: Irani
authors.affiliation: Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Ahani
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000378:metabolism; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012175:Retinoblastoma / Q000235:genetics*; D012306:Risk
chemical_list: D005492:Folic Acid; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
keywords: Iranian population; MTR A2756G; Polymorphism; Retinoblastoma