Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study |
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Authors: | Schwaag S Evers S Schirmacher A Stögbauer F Ringelstein E B Kuhlenbäumer G |
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Institution: | Department of Neurology, University of Münster, Münster, Germany. |
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Abstract: | Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Exons 3 and 4 are mutation hotspots. Migraine is a clinical hallmark of CADASIL. The objective of this study was to investigate whether genetic variants in exons 3 and 4 of the NOTCH3 gene are associated with migraine. Exons 3 and 4 of the NOTCH3 were analysed for mutations and polymorphisms by direct DNA sequencing in 97 migraineurs and the same number of control individuals. No mutations in exons 3 and 4 of the NOTCH3 gene were found in 97 patients with migraine. However, association analysis revealed significant association of the single nucleotide polymorphism (SNP) rs1043994 with migraine. |
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Keywords: | Association study CADASIL migraine NOTCH3 |
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