Affiliations: UnIGENe-IBMC, Instituto de Biologia Molecular e
Celular, Universidade do Porto, Porto, Portugal | Departamento de Estudo das Populações, ICBAS,
Universidade do Porto, Porto, Portugal | Centro de Estudo de Cefaleias, Hospital Geral Santo
António, Porto, Portugal | Life and Health Sciences Research Institute (ICVS),
School of Health Sciences, University of Minho, Braga, Portugal
Note: [] Corresponding author: Patricia Maciel, Life and Health Sciences
Research Institute (ICVS), School of Health Sciences, University of Minho,
Campus de Gualtar, 4710-057 Braga, Portugal. Tel.: +351 253 60 48 24; Fax:
+351 253 60 48 20; E-mail: [email protected]
Abstract: Migraine is a debilitating disorder affecting a large proportion of
the population. The effect of methylenetrathydrofolate reductase (GeneID: 4524)
polymorphisms in migraine etiology and development has been a theme of great
interest. Several populations were evaluated with contradictory results. In
this case-control study, we investigated the effect of the C677T polymorphism
in MTHFR, as a genetic risk factor for migraine, in the Portuguese
population. We observed that, overall, there was no significant difference in
the frequencies of MTHFR C677T genotypes or of the T-allele among the
Portuguese migraineurs when compared to controls. There was also no association
of migraine with aura with MTHFR genotypes or with the T-allele, in
contrast with previous studies. Regarding the risk of the T-allele homozygote
carriers, there was an equal probability to develop migraine with aura over
migraine without aura in our patients. Thus, we conclude that the C677T
MTHFR polymorphism, responsible for a reduction of the MTHFR activity in
folate metabolism, is not a major genetic susceptibility factor for migraine in
the Portuguese population.
Keywords: Migraine with aura, association study, folate metabolism, homocysteine, cephalalgia
