• Elisa Rubino, Pierpaola Fenoglio, Salvatore Gallone, Flora Govone, Alessandro Vacca, Paola De Martino, Maria Laura Giobbe, Silvia Boschi, Lorenzo Pinessi, Salvatore Gentile, and Innocenzo Rainero.
• Neurology II, Department of Neuroscience, University of Torino, Via Cherasco 15, Torino, 10126, Italy. elisa.rubino@unito.it
• J Headache Pain. 2013 Mar 26; 14 (1): 2828.

BackgroundRecent studies suggested an important role for vascular factors in migraine etiopathogenesis. Notch4 belongs to a family of transmembrane receptors that play an important role in vascular development and maintenance. The aim of this study was to test the hypothesis that polymorphisms of the NOTCH4 gene would modify the occurrence and the clinical features of migraine.FindingsUsing a case-control strategy, we genotyped 239 migraine patients and 264 controls for three different non-synonymous polymorphisms (T320A, G835V, R1346P) of the NOTCH4 gene and for the (CTG) n-encoding polyleucine polymorphism in exon 1. Although the analyzed polymorphisms resulted not associated with migraine, the clinical characteristics of our patients were significantly influenced by the different NOTCH4 genotypes. Longer duration of disease and severity of neurovegetative symptoms during headache attacks were associated with the R1346P and G835V polymorphisms, respectively. In female patients, worsening of migraine symptoms at menarche was significantly correlated with T320A polymorphism.ConclusionsOur study shows that genetic variations within the NOTCH4 gene significantly modify the clinical characteristics of migraine and may have a role in disease pathogenesis.

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