Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
- Bjornsdottir, Gyda
- Chalmer, Mona A.
- Stefánsdóttir, Lilja
- Skuladottir, Astros Th
- Einarsson, Gudmundur
- Andrésdóttir, Margrét
- Beyter, Doruk
- Ferkingstad, Egil
- Gretarsdottir, Solveig
- Halldórsson, Bjarni Vilhjálmur
- Halldórsson, Gísli Hreinn
- Helgadottir, Anna
- Helgason, Hannes
- Hjorleifsson Eldjarn, Grimur
- Jonasdottir, Adalbjorg
- Jonasdottir, Aslaug
- Jónsdóttir, Ingileif
- Knowlton, Kirk U.
- Nadauld, Lincoln D.
- Lund, Sigrún Helga
- Magnusson, Olafur Th
- Melsted, Páll
- Moore, Kristjan H.S.
- Oddsson, Asmundur
- Olason, Pall I.
- Sigurdsson, Asgeir
- Stefansson, Olafur A.
- Saemundsdottir, Jona
- Sveinbjornsson, Gardar
- Tragante, Vinicius
- Unnsteinsdottir, Unnur
- Walters, Guðmundur Bragi
- Zink, Florian
- Rødevand, Linn
- Andreassen, Ole A.
- Igland, Jannicke
- Lie, Rolv T.
- Haavik, Jan
- Banasik, Karina
- Brunak, Søren
- Didriksen, Maria
- T. Bruun, Mie
- Erikstrup, Christian
- Kogelman, Lisette J.A.
- Nielsen, Kaspar R.
- Sørensen, Erik
- Pedersen, Ole B.
- Ullum, Henrik
- Bay, Jakob
- Boldsen, Jens K.
- Brodersen, Thorsten
- Burgdorf, Kristoffer
- Dinh, Khoa M.
- Dowsett, Joseph
- Feenstra, Bjarke
- Geller, Frank
- Hindhede, Lotte
- Hjalgrim, Henrik
- Jacobsen, Rikke L.
- Jemec, Gregor
- Kaspersen, Katrine
- Kjerulf, Bertram D.
- Larsen, Margit A.H.
- Louloudis, Ioannis
- Lundgaard, Agnete
- Mikkelsen, Susan
- Mikkelsen, Christina
- Nissen, Ioanna
- Nyegaard, Mette
- Henriksen, Alexander P.
- Rohde, Palle D.
- Rostgaard, Klaus
- Swinn, Michael
- Thørner, Lise W.
- Bruun, Mie T.
- Werge, Thomas
- Westergaard, David
- Masson, Gisli
- Þorsteinsdóttir, Unnur
- Olesen, Jes
- Ludvigsson, Petur
- Thorarensen, Ólafur
- Bjornsdottir, Anna
- Sigurdardottir, Gudrun R.
- Sveinsson, Ólafur Árni
- Ostrowski, Sisse R.
- Holm, Hilma
- Gudbjartsson, Daniel F.
- Thorleifsson, Gudmar
- Sulem, Patrick
- Stefansson, Hreinn
- Thorgeirsson, Thorgeir E.
- Hansen, Thomas F.
- Stefánsson, Kári
DOIAbstract
Publisher Copyright: © 2023, The Author(s).Migraine is a complex neurovascular disease with a range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, migraine with aura (MA) and migraine without aura (MO). We identified four new MA-associated variants (in PRRT2, PALMD, ABO and LRRK2) and classified 13 MO-associated variants. Rare variants with large effects highlight three genes. A rare frameshift variant in brain-expressed PRRT2 confers large risk of MA and epilepsy, but not MO. A burden test of rare loss-of-function variants in SCN11A, encoding a neuron-expressed sodium channel with ...
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