title: Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida.
abstract: We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spina bifida. The studied population included 106 mothers and 104 children from affected families, and a control group of 100 adults. We found statistically significant differences between the occurrence of the homozygosity in these polymorphisms in the groups of mothers and children with thoracolumbal defects (C677T polymorphism) and lumbosacral defects (A66G polymorphism). We postulate that these polymorphisms should be regarded as independent risk factors for spina bifida.
authors.affiliation: Chair and Department of Pediatrics, Polish-American Children's Hospital, Jagiellonian University, ul. Wielicka 265, 30-663 Kraków, Poland.
authors.forename: Jacek J
authors.initials: JJ
authors.lastname: Pietrzyk
authors.forename: Mirosław
authors.initials: M
authors.lastname: Bik-Multanowski
authors.forename: Marek
authors.initials: M
authors.lastname: Sanak
authors.forename: Magdalena
authors.initials: M
authors.lastname: Twardowska
mesh_terms: D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D016135:Spinal Dysraphism / Q000235:genetics*
chemical_list: C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)