Introduction: Boys have been found to have higher risk for pediatric stroke. One of important genetic risk factors for pediatric stroke is considered to be the decreased activity of methylenetetrahydrofolate reductase (MTHFR), which is caused by polymorphisms of C677T and A1298C. The aim of the study is to examine the role of two MTHFR polymorphisms as pediatric stroke risk factors and investigate possible gender differences.

Method: 96 randomly chosen stroke patients (F=44; M=52), 59 with perinatal and 37 with childhood stroke, participated. Population-based control group was 300 healthy people (M=150, F=150), ages 18-30. DNA testing for MTHFR 677C>T, 1298A>C mutations were performed. MTHFR genotypes were determined by PCR using specific primers.

Results: Any mutation in either or both of the loci was found in 86% of patients. c.1298A>C and c.677C>T polymorphisms have higher tendency amongst boys with perinatal stroke than girls, 28.8% vs 23 .7% (OR=1.96) and 30.5% vs 23.7% (OR=4.13) respectively. Boys with childhood stroke also have higher tendency for c.677A>C mutation than girls (35.9% vs 27%; OR=5.14), although girls have higher tendency for c.1298A>C (27% vs 21.6%, OR=5.95). Comparison with controls showed significantly higher tendency for c.677C>T polymorphisms in children with stroke (57.3% vs 46%).

Conclusion: Our data support the hypothesis that MTHFR polymorphisms represent an important genetic risk factor for pediatric stroke. MTHFR polymorphisms were higher in boys, whereas boys had higher polymorphisms for C677T and girls for A1298C. Our findings suggest that higher stroke rate in boys could be caused by higher genetic risk factors.