Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura
dc.date.accessioned | 2024-02-27T18:13:24Z | |
dc.date.available | 2024-02-27T18:13:24Z | |
dc.date.created | 2023-11-02T13:08:54Z | |
dc.date.issued | 2023 | |
dc.identifier.citation | Bjornsdottir, Gyda Chalmer, Mona A. Stefansdottir, Lilja Skuladottir, Astros Th. Einarsson, Gudmundur Andresdottir, Margret Beyter, Doruk Ferkingstad, Egil Gretarsdottir, Solveig Halldorsson, Bjarni V. Halldorsson, Gisli H. Helgadottir, Anna Helgason, Hannes Hjorleifsson Eldjarn, Grimur Jonasdottir, Adalbjorg Jonasdottir, Aslaug Jonsdottir, Ingileif Knowlton, Kirk U. Nadauld, Lincoln D. Lund, Sigrun H. Magnusson, Olafur Th. Melsted, Pall Moore, Kristjan H. S. Oddsson, Asmundur Olason, Pall I. Sigurdsson, Asgeir Stefansson, Olafur A. Saemundsdottir, Jona Sveinbjornsson, Gardar Tragante, Vinicius Unnsteinsdottir, Unnur Walters, G. Bragi Zink, Florian Rødevand, Linn Andreassen, Ole 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 Thorsteinsdottir, Unnur Olesen, Jes Ludvigsson, Petur Thorarensen, Olafur Bjornsdottir, Anna Sigurdardottir, Gudrun R. Sveinsson, Olafur A. Ostrowski, Sisse R. Holm, Hilma Gudbjartsson, Daniel F. Thorleifsson, Gudmar Sulem, Patrick Stefansson, Hreinn Thorgeirsson, Thorgeir E. Hansen, Thomas F Stefansson, Kari . Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. Nature Genetics. 2023 | |
dc.identifier.uri | http://hdl.handle.net/10852/108701 | |
dc.description.abstract | Abstract 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 a key role in pain sensation, shows strong protection against migraine. Finally, a rare variant with cis -regulatory effects on KCNK5 confers large protection against migraine and brain aneurysms. Our findings offer new insights with therapeutic potential into the complex biology of migraine and its subtypes. | |
dc.language | EN | |
dc.publisher | Nature Portfolio | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura | |
dc.title.alternative | ENEngelskEnglishRare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura | |
dc.type | Journal article | |
dc.creator.author | Bjornsdottir, Gyda | |
dc.creator.author | Chalmer, Mona A. | |
dc.creator.author | Stefansdottir, Lilja | |
dc.creator.author | Skuladottir, Astros Th. | |
dc.creator.author | Einarsson, Gudmundur | |
dc.creator.author | Andresdottir, Margret | |
dc.creator.author | Beyter, Doruk | |
dc.creator.author | Ferkingstad, Egil | |
dc.creator.author | Gretarsdottir, Solveig | |
dc.creator.author | Halldorsson, Bjarni V. | |
dc.creator.author | Halldorsson, Gisli H. | |
dc.creator.author | Helgadottir, Anna | |
dc.creator.author | Helgason, Hannes | |
dc.creator.author | Hjorleifsson Eldjarn, Grimur | |
dc.creator.author | Jonasdottir, Adalbjorg | |
dc.creator.author | Jonasdottir, Aslaug | |
dc.creator.author | Jonsdottir, Ingileif | |
dc.creator.author | Knowlton, Kirk U. | |
dc.creator.author | Nadauld, Lincoln D. | |
dc.creator.author | Lund, Sigrun H. | |
dc.creator.author | Magnusson, Olafur Th. | |
dc.creator.author | Melsted, Pall | |
dc.creator.author | Moore, Kristjan H. S. | |
dc.creator.author | Oddsson, Asmundur | |
dc.creator.author | Olason, Pall I. | |
dc.creator.author | Sigurdsson, Asgeir | |
dc.creator.author | Stefansson, Olafur A. | |
dc.creator.author | Saemundsdottir, Jona | |
dc.creator.author | Sveinbjornsson, Gardar | |
dc.creator.author | Tragante, Vinicius | |
dc.creator.author | Unnsteinsdottir, Unnur | |
dc.creator.author | Walters, G. Bragi | |
dc.creator.author | Zink, Florian | |
dc.creator.author | Rødevand, Linn | |
dc.creator.author | Andreassen, Ole | |
dc.creator.author | Igland, Jannicke | |
dc.creator.author | Lie, Rolv T. | |
dc.creator.author | Haavik, Jan | |
dc.creator.author | Banasik, Karina | |
dc.creator.author | Brunak, Søren | |
dc.creator.author | Didriksen, Maria | |
dc.creator.author | T. Bruun, Mie | |
dc.creator.author | Erikstrup, Christian | |
dc.creator.author | Kogelman, Lisette J. A. | |
dc.creator.author | Nielsen, Kaspar R. | |
dc.creator.author | Sørensen, Erik | |
dc.creator.author | Pedersen, Ole B. | |
dc.creator.author | Ullum, Henrik | |
dc.creator.author | Bay, Jakob | |
dc.creator.author | Boldsen, Jens K. | |
dc.creator.author | Brodersen, Thorsten | |
dc.creator.author | Burgdorf, Kristoffer | |
dc.creator.author | Dinh, Khoa M. | |
dc.creator.author | Dowsett, Joseph | |
dc.creator.author | Feenstra, Bjarke | |
dc.creator.author | Geller, Frank | |
dc.creator.author | Hindhede, Lotte | |
dc.creator.author | Hjalgrim, Henrik | |
dc.creator.author | Jacobsen, Rikke L. | |
dc.creator.author | Jemec, Gregor | |
dc.creator.author | Kaspersen, Katrine | |
dc.creator.author | Kjerulf, Bertram D. | |
dc.creator.author | Larsen, Margit A. H. | |
dc.creator.author | Louloudis, Ioannis | |
dc.creator.author | Lundgaard, Agnete | |
dc.creator.author | Mikkelsen, Susan | |
dc.creator.author | Mikkelsen, Christina | |
dc.creator.author | Nissen, Ioanna | |
dc.creator.author | Nyegaard, Mette | |
dc.creator.author | Henriksen, Alexander P. | |
dc.creator.author | Rohde, Palle D. | |
dc.creator.author | Rostgaard, Klaus | |
dc.creator.author | Swinn, Michael | |
dc.creator.author | Thørner, Lise W. | |
dc.creator.author | Bruun, Mie T. | |
dc.creator.author | Werge, Thomas | |
dc.creator.author | Westergaard, David | |
dc.creator.author | Masson, Gisli | |
dc.creator.author | Thorsteinsdottir, Unnur | |
dc.creator.author | Olesen, Jes | |
dc.creator.author | Ludvigsson, Petur | |
dc.creator.author | Thorarensen, Olafur | |
dc.creator.author | Bjornsdottir, Anna | |
dc.creator.author | Sigurdardottir, Gudrun R. | |
dc.creator.author | Sveinsson, Olafur A. | |
dc.creator.author | Ostrowski, Sisse R. | |
dc.creator.author | Holm, Hilma | |
dc.creator.author | Gudbjartsson, Daniel F. | |
dc.creator.author | Thorleifsson, Gudmar | |
dc.creator.author | Sulem, Patrick | |
dc.creator.author | Stefansson, Hreinn | |
dc.creator.author | Thorgeirsson, Thorgeir E. | |
dc.creator.author | Hansen, Thomas F | |
dc.creator.author | Stefansson, Kari | |
cristin.unitcode | 185,53,10,70 | |
cristin.unitname | Senter for presisjonspsykiatri | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 2191457 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Nature Genetics&rft.volume=&rft.spage=&rft.date=2023 | |
dc.identifier.jtitle | Nature Genetics | |
dc.identifier.volume | 55 | |
dc.identifier.issue | 11 | |
dc.identifier.startpage | 1843 | |
dc.identifier.endpage | 1853 | |
dc.identifier.pagecount | 0 | |
dc.identifier.doi | https://doi.org/10.1038/s41588-023-01538-0 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 1061-4036 | |
dc.type.version | PublishedVersion |
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