• Cephalalgia · Jun 2013

    Review

    Pearls and pitfalls in genetic studies of migraine.

    • Else Eising, Boukje de Vries, Michel D Ferrari, Gisela M Terwindt, and Arn M J M van den Maagdenberg.
    • Department of Human Genetics, Leiden University Medical Centre, 2300 RC Leiden, The Netherlands.
    • Cephalalgia. 2013 Jun 1;33(8):614-25.

    Purpose Of ReviewMigraine is a prevalent neurovascular brain disorder with a strong genetic component, and different methodological approaches have been implemented to identify the genes involved. This review focuses on pearls and pitfalls of these approaches and genetic findings in migraine.SummaryCommon forms of migraine (i.e. migraine with and without aura) are thought to have a polygenic make-up, whereas rare familial hemiplegic migraine (FHM) presents with a monogenic pattern of inheritance. Until a few years ago only studies in FHM yielded causal genes, which were identified by a classical linkage analysis approach. Functional analyses of FHM gene mutations in cellular and transgenic animal models suggest abnormal glutamatergic neurotransmission as a possible key disease mechanism. Recently, a number of genes were discovered for the common forms of migraine using a genome-wide association (GWA) approach, which sheds first light on the pathophysiological mechanisms involved.ConclusionsNovel technological strategies such as next-generation sequencing, which can be implemented in future genetic migraine research, may aid the identification of novel FHM genes and promote the search for the missing heritability of common migraine.

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