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Novel potential risk loci for migraine in the Portuguese population

2026-06-06Artigo de investigação Acesso aberto
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dc.contributor.authorMarco, Rodrigo De
dc.contributor.authorPucci, Kevin
dc.contributor.authorSantos, Mariana
dc.contributor.authorGil-Gouveia, Raquel
dc.contributor.authorCavadas, Bruno
dc.contributor.authorSousa, Alda
dc.contributor.authorAlves-Ferreira, Miguel
dc.contributor.authorAzevedo, Luísa
dc.contributor.authorLemos, Carolina
dc.contributor.authorDias, Andreia
dc.date.accessioned2026-07-06T16:10:19Z
dc.date.available2026-07-06T16:10:19Z
dc.date.issued2026-06-06
dc.description.abstractCommon forms of migraine are complex disorders characterized by significant clinical diversity. Their genetic basis has been extensively studied but remains unclear. This study represents the first pilot genome-wide association study (GWAS) integrating a polygenic risk score (PRS) in the Portuguese population, designed to identify migraine susceptibility loci through a case–control study and unravel population-specific variants. Genotyping data was acquired with Applied Biosystems Axiom™ PMDA array, producing 12,035,248 singlenucleotide polymorphisms (SNPs) post-imputation, providing a comprehensive scope for GWAS analysis. PRS models were created and tested using a k-folds cross-validation framework and the optimal significance threshold was assessed. We detected 12 potential risk loci corresponding to 12 lead SNPs (RP11-204N11.2, CTA-481E9.4/CTA-481E9.3, RAP1A, TIGD4, CADPS2, RP11-46E17.6, RP4-569D19.5, RP11-398K14.1, PCBP1-AS1, TCF15, IL6R and UNC13A). The top three variants (RP11-204N11.2, CTA-481E9.4/CTA-481E9.3 and RAP1A) were also supported by the PRS model. We highlight that several variants present putative biological relevance to migraine pathophysiology, reinforcing the importance of neurotransmitter release, synaptic transmission and the involvement of vascular components in migraine pathophysiology.eng
dc.identifier.doi10.3390/ijms27125165
dc.identifier.eid105043095390
dc.identifier.other0d4a7eef-4025-4514-a918-af8a0bff9dab
dc.identifier.pmcPMC13300717
dc.identifier.pmid42352890
dc.identifier.urihttp://hdl.handle.net/10400.14/58501
dc.identifier.wos001802528800001
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGwaseng
dc.subjectMigraineeng
dc.subjectPolygenic risk scoreeng
dc.subjectSynaptic transmissioneng
dc.subjectVascular diseaseeng
dc.titleNovel potential risk loci for migraine in the Portuguese population
dc.typeresearch article
dspace.entity.typePublication
oaire.citation.issue12
oaire.citation.volume27
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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