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: Anna Balcerzyk, Paweł Niemiec, Ilona Kopyta, Ewa Emich-Widera, Ewa Pilarska, Karolina Pienczk-Ręcławowicz, Marek Kaciński, Janusz Wendorff, Iwona Żak
• Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association (J Stroke Cerebrovasc Dis) Vol. 24 Issue 1 Pg. 61-5 (Jan 2015) ISSN: 1532-8511 [Electronic] United States
• PMID: 25440348 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Chemical References

• Methylenetetrahydrofolate Reductase (NADPH2)

Topics

• Adolescent
• Alleles
• Case-Control Studies
• Child
• Child, Preschool
• Family
• Female
• Gene Frequency
• Genetic Predisposition to Disease
• Genotype
• Humans
• Hyperhomocysteinemia (complications, genetics)
• Infant
• Male
• Methylenetetrahydrofolate Reductase (NADPH2) (genetics)
• Polymorphism, Genetic (genetics)
• Polymorphism, Restriction Fragment Length
• Stroke (enzymology, genetics)