Introduction: Women have been found to have a higher risk for migraine. The pathogenesis of migraine is known to be related to the presence of genetic polymorphisms of MTHFR mutations c.677C>T and c.1298A>C. The aim of the study is to examine the role of two MTHFR polymorphisms as risk factors for pediatric migraine and examine the differences between genders.

Methods: 47 patients (M=16; F=31) with migraine diagnosed according to the International Classification of Headache Disorders were randomly selected. The mean age of the study group was 13.4 yrs (SD=3.5). The control group (M=150, F=150) consisted of population-based healthy people ages 18-30. DNA testing for MTHFR 677C>T, 1298A>C mutations were performed. MTHFR genotypes were determined by PCR using specific primers.

Results: Amongst patients with aura, girls had higher frequency for c.1298A>C and c.677C>T mutations than boys: 46.6% vs 20% and 26.7% vs 13.3% respectively. In the patients’ group without aura, girls also had higher frequency for mutation of c.677C>T than boys, 33.3% vs 16.7% respectively.  Comparing the overall migraine group with controls, we also found higher frequency for mutations in women with migraine (54.8% vs 48% for 1298A>C; 58.1% vs 40% for 677C>T).

Conclusion: Our study shows that girls have a higher frequency for migraine than boys. We found that girls with migraine (with aura and without aura) have increased frequency of c.677C>T mutation. The present result indicate a possible contribution of MTHFR gene polymorphisms to migraine headache generation in children.