The T allele of the 677C>T polymorphism of methylenetetrahydrofolate reductase gene is associated with an increased risk of ischemic stroke in Polish children

Journal of Child Neurology

Volumn 24, Issue 10, 2009, Pages 1262-1267

  Zak, Iwona ^a   Sarecka Hujar, Beata ^a   Kopyta, Ilona ^a   Emich Widera, Ewa ^a   Marszal, Elzbieta ^a   Wendorff, Janusz ^b   Jachowicz Jeszka, Joanna ^b  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

^b Institute in Lodz   (Poland)

Author keywords

Childhood ischemic stroke; Hyperhomocysteinemia; Mthfr polymorphisms

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CHOLESTEROL; CYTOSINE; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; THYMINE; TRIACYLGLYCEROL; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

ADOLESCENT; ADULT; ALLELE; ARTICLE; CEREBROVASCULAR ACCIDENT; CHILD; CONTROLLED STUDY; DNA EXTRACTION; DNA PURIFICATION; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HERITABILITY; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; POLAND; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; PROGENY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; RISK FACTOR; SCHOOL CHILD; SEX DIFFERENCE; BRAIN ISCHEMIA; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; PARENT; RISK; SEXUAL DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; STROKE;

ADOLESCENT; BRAIN ISCHEMIA; CHILD; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); ODDS RATIO; PARENTS; POLAND; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEX CHARACTERISTICS; STROKE; YOUNG ADULT;

EID: 74949085061     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809333527     Document Type: Article

References (24)

1. Broderick J, Talbot GT, Prenger E, Leach A, Brott T. Stroke in children within a major metropolitan area: the surprising importance of intracerebral hemorrhage. J Child Neurol. 1993;8(3):250-255.
2. Chung B, Wong V. Pediatric stroke among Hong Kong Chinese subjects. Pediatrics. 2004;114(2):e206-e212.
3. Jakubowski H. Protein N-homocysteinylation: implications for atherosclerosis. Biomed Pharmaco Ther. 2001;55(8):443-447.
4. Brattstrom L, Wilcken DE, Ohrvik J, Brudin L. Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease: the result of a meta-analysis. Circulation. 1998;98(23):2520-2526.
5. Refsum H, Ueland PM, Nygård O, Vollset SE. Homocysteine and cardiovascular disease. Annu Rev Med. 1998;49:31-62.
6. Cardo E, Vilaseca MA, Campistol J, Artuch R, Colomé C, Pineda M. Evaluation of hyperhomocysteinaemia in children with stroke. Eur J Paediatr Neurol. 1999;3(3):113-117.
7. van Beynum IM, Smeitink JA, den HeijerM, tePoele Pothoff MT, Blom HJ. Hyperhomocysteinemia: a risk factorfor ischemic stroke in children. Circulation. 1999;99(16):2070-2072.
8. Sirachainan N, Tapanapruksakul P, Visudtibhan A, et al. Homocysteine, MTHFR C677 T, vitamin B12, and folate levels in Thai children with ischemic stroke: a case-control study. J Pediatr Hematol Oncol. 2006;28(12):803-808.
9. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 1995;10(1):111-113.
10. World Health Organization. International Classification of Impairments, Disabilities, and Handicaps. Geneva, Switzerland: World Health Organization; 1980.
11. Bamford J, Dennis M, Sandercock M, Burn J, Warlow C. The frequency, causes and timing of death within 30 days of the first stroke: the Oxfordshire Community Stroke Project. J Neurol Neurosurg Psychiatry. 1990;53(10):824-829.
12. Bamford J, Sandercock P, Dennis M, Burn J, Warlow C. Classification and natural history of clinically identifiable subtypes of cerebral infarction. Lancet. 1991;337(8756):1521-1526.
13. Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of preparative centrifuge. Clin Chem. 1972;18(6):499-502.
14. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulindependent diabetes mellitus (IDDM). Am J Hum Genet. 1993;52(3):506-516.
15. Cardo E, Monrós E, Colomé C, et al. Children with stroke: polymorphism of the MTHFR gene, mild hyperhomocysteinemia, and vitamin status. J Child Neurol. 2000;15:295-298.
16. Rook JL, Nugent DJ, Young G. Pediatric stroke and methylenetetrahydrofolate reductase polymorphisms: an examination of C677T and A1298C mutations. J Pediatr Hematol Oncol. 2005;27(11):590-593.
17. Nowak-Göttl U, Sträter R, Heinecke A, et al. Lipoprotein (a) and genetic polymorphisms of clotting factor V, prothrombin, and methylenetetrahydrofolate reductase are risk factors of spontaneous ischemic stroke in childhood. Blood. 1999;94(11):3678-3682.
18. Akar N, Akar E, Deda G, Sipahi T, Orsal A. Factor V1691 G-A, prothrombin 20210 G-A, and methylenetetrahydrofolate reductase 677 C-T variants in Turkish children with cerebral infarct. J Child Neurol. 1999;14(11):749-751.
19. Akar N, Akar E, Ozel D, Deda G, Sipahi T. Common mutations at the homocysteine metabolism pathway and pediatric stroke. Thromb Res. 2001;102(2):115-120.
20. Komitopoulou A, Platokouki H, Kapsimali Z, Pergantou H, Adamtziki E, Aronis S. Mutations and polymorphisms in genes affecting hemostasis proteins and homocysteine metabolism in children with arterial ischemic stroke. Cerebrovasc Dis. 2006;22(1):13-20.
21. Goracy I, Goracy J, Suliga M, Ciechanowicz A. C677T gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) in patients with myocardial infarction. Pol Arch Med Wewn. 1999;102(4):849-854.
22. Zak I, Niemiec P, Sarecka B, et al. Carrier-state of D allele in ACE gene insertion/deletion polymorphism is associated with coronary artery disease, in contrast to the C677->T transition in the MTHFR gene. Acta Biochim Pol. 2003;50(2):527-534.
23. Sarecka-Hujar B, Zak I, Krauze J. Carrier-state of two or three polymorphic variants of MTHFR, IL-6 and ICAM1 genes increases the risk of coronary artery disease. Kardiol Pol. 2008;66(12):1269-1277.
24. Zak I, Sarecka B, Balcerzyk A, et al. Methylenetetrahydrofolate reductase gene HinfI 677C->T polymorphism and brain ischemic stroke in children: association pilot-study. Part two. Neurol Dziec. 2004;13(26):31-36.