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Homozygous thermolabile variant of the methylenetetrahy-drofolate reductase gene: a potential risk factor for hyperhomo-cysteinaemia, CVD, and stroke in childhood

Published online by Cambridge University Press:  12 April 2001

Mara Prengler
Affiliation:
Neurosciences Unit, Institute of Child Health, University College London WCIN 1EH, UK.
Natalie Sturt
Affiliation:
Department of Haematology, Great Ormond Street Hospital For Children NHS Trust, UK.
Steve Krywawych
Affiliation:
Department of Chemical Pathology, Great Ormond Street Hospital For Children NHS Trust, UK.
Robert Surtees
Affiliation:
Neurosciences Unit, Institute of Child Health, University College London WCIN 1EH, UK.
Raina Liesner
Affiliation:
Department of Haematology, Great Ormond Street Hospital For Children NHS Trust, UK.
Fenella Kirkham
Affiliation:
Neurosciences Unit, Institute of Child Health, University College London WCIN 1EH, UK.
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Abstract

In this study of 118 children (median age 5.1 years; range 6 months to 17 years) with ischaemic stroke or transient ischaemic attack (TIA), 22 children (19%) were homozygous for the thermolabile variant of the methylenetetrahydrofolate reductase allele (t-MTHFR), compared with nine of 78 (12%) of a reference population (p=0.18, OR 1.76, 95% CI 0.76 to 4.04). Of those with cerebrovascular disease (CVD), 17 of 84 were homozygous for the t-MTHFR allele (p=0.13 compared with the reference population (OR 1.95, 95% CI 0.81 to 4.65). There was a significant (p<0.025) increment of plasma total homocysteine concentration in homozygotes for the t-MTHFR allele compared with heterozygotes, negatives for the t-MTHFR allele, and control children with no history of stroke. In four of 12 homozygotes for the t-MTHFR allele, plasma homocysteine levels were raised, compared with three of 38 of those who were negative or heterozygous (p=0.047; OR 5.8, 95% CI 1.1 to 31.2). Homozygotes for the t-MTHFR allele were significantly more likely to have a recurrent event than those who were negative or heterozygous (Cox regression p=0.031, hazard ratio 2.18, 95% CI 1.08 to 4.42). These data suggest that homozygosity for the t-MTHFR allele is associated with raised homocysteine levels in children and is a risk factor for primary and secondary stroke and TIA.

Type
Original Articles
Copyright
© 2001 Mac Keith Press

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