ArticleNature genetics2023
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura.
Open access · hybridAbstract read
In one paragraph
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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30citing papers in PubMed, 1 pooled it
11.6field-weighted citation impact, top 1% of its field
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Fine-mapping a genome-wide meta-analysis of 98,374 migraine cases identifies 181 sets of candidate causal variants.Nature communications · 2026Pooled it
- Mechanisms of intracellular pH gating and local anesthetic inhibition of the two-pore domain KProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.Human molecular genetics · 2026Article
- Peripheral CD4 T-Cell State Remodeling in Migraine Revealed by Single-Cell RNA Sequencing.Journal of molecular neuroscience : MN · 2026Article
- Integrative genetic analysis identifies shared regulation of DNA methylation and gene expression in migraine risk.The journal of headache and pain · 2026Article
- Explaining the unexplained admixture mapping signals via rare variants: the HCHS/SOL.bioRxiv : the preprint server for biology · 2026Article
- Maternal migraine and offspring ADHD: triangulating the evidence.BMC medicine · 2026Article
- Diagnosing migraine from genome-wide genotype data: a machine learning analysis.Brain : a journal of neurology · 2026Article
- Elucidating the susceptibility genes between insomnia and migraine by integrating genetic data and transcriptomes.The journal of headache and pain · 2026Article
- Peripheral Immune and Metabolic Dysregulation in Migraine, Ménière's Disease, and Vestibular Migraine: A Single-Cell Atlas Study.Human mutation · 2026Article
- Transformer-based deep learning enhances discovery in migraine GWAS.Nature communications · 2025Article
- Epigenome-wide DNA methylation profiling reveals risk genes for migraine and its subtypes.The journal of headache and pain · 2025Article
- Changes of Basilar Artery in Patients With Migraine: A Case-Control Study Based on 3T MRI.Brain and behavior · 2025Article
- Dissecting immune cell-specific genetics in migraine: a multi-omics framework for target discovery and therapeutic prioritization.The journal of headache and pain · 2025Article
- Article
- Atrophy of hypothalamic subregions increases migraine risk: cross-sectional study and mendelian randomization analysis.The journal of headache and pain · 2025Article
- Genome-wide study of somatic symptom and related disorders identifies novel genomic loci and map genetic architecture.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer's disease comorbidities.Scientific reports · 2025Article
- Polygenic scores contribution to Parkinson's disease comorbidities.Brain communications · 2025Article
- Causal Relationship Between Migraine and Postpartum Depression: A Two-Sample Bidirectional Mendelian Randomization Study.Journal of pain research · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
66 authors at 20 institutions in 4 countries.
Gyda Bjornsdottir *deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. gyda.bjornsdottir@decode.is.ORCID 0000-0002-8100-0306
Mona A Chalmer *Danish Headache Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet-Glostrup, Copenhagen, Denmark.ORCID 0000-0003-4609-1895
Lilja StefansdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Astros Th SkuladottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-5048-0933
Gudmundur EinarssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-1326-2339
Margret AndresdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Doruk BeyterdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Egil FerkingstaddeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0001-8090-7988
Solveig GretarsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-2616-7269
Bjarni V HalldorssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0003-0756-0767
Gisli H HalldorssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0001-7067-9862
Anna HelgadottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-1806-2467
Hannes HelgasondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Grimur Hjorleifsson EldjarndeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-9580-6685
Adalbjorg JonasdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Aslaug JonasdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0001-8339-150X
Kirk U KnowltonIntermountain Heart Institute, Salt Lake City, UT, USA.
Lincoln D NadauldIntermountain Healthcare, Saint George, UT, USA.
Sigrun H LunddeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-3806-2296
Olafur Th MagnussondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Pall MelsteddeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Kristjan H S MooredeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-9579-4362
Asmundur OddssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-4606-5163
Pall I OlasondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Asgeir SigurdssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Olafur A StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-9663-3018
Jona SaemundsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Gardar SveinbjornssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0003-2429-9468
Vinicius TragantedeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-8223-8957
Unnur UnnsteinsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
G Bragi WaltersdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-5415-6487
Florian ZinkdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Linn RødevandNORMENT, Centre for Mental Disorders Research, Division of Mental Health and Addiction, Oslo University Hospital, and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Ole A AndreassenNORMENT, Centre for Mental Disorders Research, Division of Mental Health and Addiction, Oslo University Hospital, and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-4461-3568
Jannicke IglandDepartment of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
Rolv T LieDepartment of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.ORCID 0000-0001-6287-4051
Jan HaavikDepartment of Biomedicine, University of Bergen, Bergen, Norway.ORCID 0000-0001-7865-2808
Karina BanasikNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-2489-2499
Søren BrunakNovo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.ORCID 0000-0003-0316-5866
Maria DidriksenDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-4856-496X
Mie T BruunDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.ORCID 0000-0002-8819-5388
Christian ErikstrupDepartment of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0001-6551-6647
Lisette J A KogelmanDanish Headache Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet-Glostrup, Copenhagen, Denmark.ORCID 0000-0001-9782-7810
Kaspar R NielsenDepartment of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
Erik SørensenDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Ole B PedersenDepartment of Clinical Immunology, Zealand University Hospital, Køge, Denmark.ORCID 0000-0003-2312-5976
Henrik UllumStatens Serum Institut, Copenhagen, Denmark.
DBDS Genetic Consortium
Gisli MassondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Jes OlesenDanish Headache Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet-Glostrup, Copenhagen, Denmark.ORCID 0000-0002-6712-2702
Petur LudvigssonDepartment of Pediatrics, Landspitali University Hostpital, Reykjavik, Iceland.
Olafur ThorarensenDepartment of Pediatrics, Landspitali University Hostpital, Reykjavik, Iceland.
Anna BjornsdottirHeilsuklasinn Clinic, Reykjavik, Iceland.
Gudrun R SigurdardottirLaeknasetrid Clinic, Reykjavik, Iceland.
Olafur A SveinssonLaeknasetrid Clinic, Reykjavik, Iceland.
Sisse R OstrowskiDepartment of Clinical Immunology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0001-5288-3851
Hilma HolmdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-9517-6636
Daniel F GudbjartssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-5222-9857
Gudmar ThorleifssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0003-4623-9087
Patrick SulemdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0001-7123-6123
Hreinn StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Thorgeir E ThorgeirssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Thomas F HansenDanish Headache Center, Department of Neurology, Copenhagen University Hospital, Rigshospitalet-Glostrup, Copenhagen, Denmark.ORCID 0000-0001-6703-7762
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland. kari.stefansson@decode.is.ORCID 0000-0003-1676-864X
deCODE Genetics (Iceland) · ISCopenhagen University Hospital · DKUniversity of Copenhagen · DKAarhus University Hospital · DKStatens Serum Institut · DKAalborg University · DKDanish Cancer Society · DKNational University Hospital of Iceland · ISOdense University Hospital · DKOslo University Hospital · NOReykjavík University · ISZealand University Hospital Køge · DKAalborg University Hospital · DKAarhus University · DKHaukeland University Hospital · NOIntermountain Healthcare · USIntermountain Medical Center · USNorwegian Institute of Public Health · NOWestern Norway University of Applied Sciences · NOZealand University Hospital · DK
Funding
LIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7MMethods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3MHarnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3MIdentification and validation of cell specific eQTLs by Bayesian modelingR01MH101822 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2013 to 2016
$1.9MGenetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3MMODELING THE EFFECTS OF STRUCTURAL VARIATION IN GTEX DATA AND MENDELIAN DISEASER01MH101810 · NIMH · WASHINGTON UNIVERSITY · PI CONRAD, DONALD F. · 2013 to 2016
$1.3MSystems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH101825 · NIMH · UNIVERSITY OF CHICAGO · PI STEPHENS, MATTHEW · 2013 to 2015
$1.1MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH090951 · NIMH · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2010 to 2012
$873kMethods for high-resolution analysis of genetic effects on gene expressionR01MH090941 · NIMH · UNIVERSITY OF GENEVA · PI DERMITZAKIS, EMMANOUIL, GUIGO, RODERIC · 2010 to 2012
$863kFACILITATING GTEx, DISEASE, AND GxE ANALYSES VIA FAST EXPRESSION (e)QTL MAPPINGR01MH090936 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NOBEL, ANDREW B, RUSYN, IVAN · 2010 to 2012
$847kUsing the Transcriptome for SNP and Gene AnnotationR01MH090937 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2010 to 2012
$825kCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENHLBI NIH HHS HHSN268201000029CNIDA NIH HHS R01 DA006227NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
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.
Indexed as
EpilepsyMigraine DisordersMigraine with AuraGenome-Wide Association StudyHumansPhenotype
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