title: Genetic variants of the NOTCH3 gene in migraine--a mutation analysis and association study.
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.
authors.affiliation: Department of Neurology, University of Münster, Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schwaag
authors.forename: S
authors.initials: S
authors.lastname: Evers
authors.forename: A
authors.initials: A
authors.lastname: Schirmacher
authors.forename: F
authors.initials: F
authors.lastname: Stögbauer
authors.forename: E B
authors.initials: EB
authors.lastname: Ringelstein
authors.forename: G
authors.initials: G
authors.lastname: Kuhlenbäumer
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch