Evidence map›Paper›PMID 42380191›Full record

ArticleNPJ genomic medicine2026

Landscape of copy number variants in Spanish people with dementia.

Itziar de Rojas, Pablo García-González, Clàudia Olivé, Raquel Puerta, Laura Montrreal, Montserrat Alegret, Oscar Sotolongo-Grau, Amanda Cano, Marta Marquié, Sergi Valero and 50 more

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Article in NPJ genomic medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

60 authors.

Itziar de RojasAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain. iderojas@fundacioace.org.
Pablo García-GonzálezAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Clàudia OlivéAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Raquel PuertaAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Laura MontrrealAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Montserrat AlegretAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Oscar Sotolongo-GrauAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Amanda CanoAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Marta MarquiéAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Sergi ValeroAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Miguel CaleroCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Alberto RábanoCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Ana Belén PastorCIEN Foundation/Queen Sofia Foundation Alzheimer Center, Madrid, Spain.
Teodoro Del SerDepartment of Neurology/CIEN Foundation/Queen Sofia Foundation Alzheimer Center, Madrid, Spain.
Inés QuintelaGrupo de Medicina Xenómica, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
Juan MacíasInstituto de Biomedicina de Sevilla (IBIS)/Departamento de Medicina, Universidad de Sevilla, Sevilla, Spain.
Anaïs Corma-GómezUnidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain.
Juan A PinedaUnidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme, Sevilla, Spain.
Emilio Franco-MacíasCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Dolores Buiza-RuedaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
María Bernal Sánchez-ArjonaUnidad de Demencias, Servicio de Neurología y Neurofisiología. Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.
Jose Luis RoyoDepartamento de Especialidades Quirúrgicas, Bioquímica e Inmunología. School of Medicine. University of Malaga, Málaga, Spain.
Silvia MendozaAlzheimer Research Center & Memory Clinic, Instituto Andaluz de Neurociencia, Málaga, Spain.
Carmen LageCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Carmen AntúnezUnidad de Demencias, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
Arturo Corbatón-AnchueloInstituto de Investigación Sanitaria, Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
María Teresa Martínez-LarradInstituto de Investigación Sanitaria, Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
Mónica Diez-FairenFundació Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Ignacio AlvarezFundació Docència i Recerca MútuaTerrassa, Terrassa, Spain.
Raquel Huerto VilasUnitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain.
Alfonso Arias PastorUnitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain.
Manuel Menéndez-GonzálezServicio de Neurología. Hospital Universitario Central de Asturias, Oviedo, Spain.
Carmen Martínez RodríguezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), Asturias, Spain.
Irene Rosas AllendeInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), Asturias, Spain.
Sebastián García-MadronaHospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
Ana Frank-GarcíaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Angel Martín-MontesCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Miquel BaqueroServei de Neurologia, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
GR@ACE
DEGESCO
Jordi Pérez-TurCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
María J BullidoCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Guillermo Garcia-RibasHospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.
Victoria ÁlvarezInstituto de Investigación Sanitaria del Principado de Asturias (ISPA), Asturias, Spain.
Gerard Piñol-RipollUnitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida, Lleida, Spain.
Pau PastorUnit of Neurodegenerative diseases, Department of Neurology, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain.
Eloy Rodriguez-RodriguezCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Jose María García-AlbercaAlzheimer Research Center & Memory Clinic, Instituto Andaluz de Neurociencia, Málaga, Spain.
Pablo MirCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
Luis M RealCIBERINFEC, Network Center for Biomedical Research in Infectious Diseases, National Institute of Health Carlos III, Madrid, Spain.
Miguel MedinaCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
María Eugenia SáezCAEBI, Centro Andaluz de Estudios Bioinformáticos, Sevilla, Spain.
Ángel CarracedoGrupo de Medicina Xenómica, CIBERER, CIMUS. Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Michael T HenekaLuxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Lluís TàrragaAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Mercè BoadaAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Pascual Sánchez-JuanCIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III, Madrid, Spain.
M Victoria FernándezAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.
Sven J van der LeeGenomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, Amsterdam, The Netherlands.
Agustín RuizAce Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain.

Funding

Agency for Innovation and Entrepreneurship (VLAIO) Nº PR067/21Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CB06/05/2004 and CB18/05/00010Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CNV-304-PRF-866EU/EFPIA Innovative Medicines Initiative Joint Nº 115975Fundación ADEY GR@ACE projectFundación Echevarne GR@ACE projectGerman Research Foundation (DFG) DESCARTES projectGrifols GR@ACE projectInstituto de Salud Carlos III CD22/00125Instituto de Salud Carlos III FI20/00215Instituto de Salud Carlos III PI17/01474, PI19/00335, PI22/01403 and PI22/00258Janssen Pharmaceutica ADAPTED and HARPONE projectsJoint Program for Neurodegenerative Diseases (JPND) Nº AC19/00097'la Caixa' Foundation GR@ACE projectNextGenerationEU PMP22/00022Spanish Ministry of Science and Innovation, Proyectos de Generación de Conocimiento PID2021-122473OA-I00, PID2021-123462OB-I00 and PID2019-106625RB-I00University of Texas System STAR Award
6 · The paper itself

Abstract

Recent studies suggest that copy number variants (CNVs) may contribute to the missing heritability of complex diseases such as Alzheimer's disease (AD) and related dementias (ADRD). We performed a CNV analysis using genotyping data (Axiom 815 K Spanish biobank array) from the GR@ACE/DEGESCO dementia dataset (n = 20,067) of the Spanish population. Applying PennCNV and extensive quality control, 8275 controls and 7818 dementia cases were selected for gene-level case/control associations. We identified 43,833 CNVs with deletions (47%) and duplications (53%). No genome-wide significant associations were found, but nominal associations were observed in PKP3-SIGIRR and FBRSL1 loci. CNVs in 2970 genes were exclusive to dementia cases and enriched in vascular-related pathways. Notable findings included 14q11.2 duplication and VPS13B deletions in ADRD cases, the latter confirmed by optical genome mapping. Our findings suggest potential novel genes associated with ADRD in the Spanish population. However, the limited resolution of array-based technologies in detecting CNVs warrants further investigation.

Identifiers

PMID42380191
PMCPMC13683362

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