title: Methylenetetrahydrofolate reductase gene A1298C polymorphism in pediatric stroke--case-control and family-based study.
abstract: Moderate hyperhomocysteinemia is one of the risk factors of pediatric stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the A1298C polymorphism and pediatric stroke. We also evaluated a possible synergistic effect of A1298C and C677T polymorphisms of this gene. The study group consisted of 88 children after ischemic stroke, 142 of their parents and 111 controls. The A1298C polymorphism was genotyped using the restriction fragment length polymorphism method. We used 2 study designs: a case-control model and a family-based association test. The Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. We did not observe any statistically significant differences either in the transmission of the A allele in the family-based test or in the frequency of the A allele in the patients group compared with the controls. We also did not notice any significant additive or synergistic effects between the A1298C and C677T polymorphisms. An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children.
authors.affiliation: Department of Biochemistry and Medical Genetics, School of Health Sciences, Medical University of Silesia, Katowice, Poland. Electronic address: abalcerzyk@slam.katowice.pl.
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerzyk
authors.affiliation: Department of Biochemistry and Medical Genetics, School of Health Sciences, Medical University of Silesia, Katowice, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Niemiec
authors.affiliation: Department of Neuropediatrics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Ilona
authors.initials: I
authors.lastname: Kopyta
authors.affiliation: Department of Neuropediatrics, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Emich-Widera
authors.affiliation: Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Pilarska
authors.affiliation: Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Pienczk-Ręcławowicz
authors.affiliation: Department of Pediatric and Adolescent Neurology, Jagiellonian University Medical College, Kraków, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Kaciński
authors.affiliation: Department of Neurology, Polish Mother's Memorial Hospital- Research Institute, Łódź, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Wendorff
authors.affiliation: Department of Biochemistry and Medical Genetics, School of Health Sciences, Medical University of Silesia, Katowice, Poland.
authors.forename: Iwona
authors.initials: I
authors.lastname: Żak
mesh_terms: D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics; D007223:Infant; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020521:Stroke / Q000201:enzymology / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: A1298C; MTHFR; Stroke; children; hyperhomocysteinemia; polymorphism