{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Ace Alzheimer Center Barcelona, Universitat Internacional de Catalunya",
    "CIBERNED, Network Center for Biomedical Research in Neurodegenerative Diseases, National Institute of Health Carlos III",
    "CIEN Foundation/Queen Sofia Foundation Alzheimer Center",
    "Department of Neurology/CIEN Foundation/Queen Sofia Foundation Alzheimer Center",
    "Grupo de Medicina Xenómica, Fundación Pública Galega de Medicina Xenómica",
    "Instituto de Biomedicina de Sevilla (IBIS)/Departamento de Medicina, Universidad de Sevilla",
    "Unidad Clínica de Enfermedades Infecciosas y Microbiología. Hospital Universitario de Valme",
    "Unidad de Demencias, Servicio de Neurología y Neurofisiología. Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla",
    "Departamento de Especialidades Quirúrgicas, Bioquímica e Inmunología. School of Medicine. University of Malaga",
    "Alzheimer Research Center & Memory Clinic, Instituto Andaluz de Neurociencia",
    "Unidad de Demencias, Hospital Clínico Universitario Virgen de la Arrixaca",
    "Instituto de Investigación Sanitaria, Hospital Clínico San Carlos (IdISSC)",
    "Fundació Docència i Recerca MútuaTerrassa",
    "Unitat Trastorns Cognitius, Hospital Universitari Santa Maria de Lleida",
    "Servicio de Neurología. Hospital Universitario Central de Asturias",
    "Instituto de Investigación Sanitaria del Principado de Asturias (ISPA)",
    "Hospital Universitario Ramon y Cajal, IRYCIS",
    "Servei de Neurologia, Hospital Universitari i Politècnic La Fe",
    "Unit of Neurodegenerative diseases, Department of Neurology, Hospital Germans Trias i Pujol, Badalona",
    "CIBERINFEC, Network Center for Biomedical Research in Infectious Diseases, National Institute of Health Carlos III",
    "CAEBI, Centro Andaluz de Estudios Bioinformáticos",
    "Grupo de Medicina Xenómica, CIBERER, CIMUS. Universidade de Santiago de Compostela",
    "Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg",
    "Genomics of Neurodegenerative Diseases and Aging, Human Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 60,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Itziar de Rojas"
    },
    {
      "affs": [
        0
      ],
      "name": "Pablo García-González"
    },
    {
      "affs": [
        0
      ],
      "name": "Clàudia Olivé"
    },
    {
      "affs": [
        0
      ],
      "name": "Raquel Puerta"
    },
    {
      "affs": [
        0
      ],
      "name": "Laura Montrreal"
    },
    {
      "affs": [
        0
      ],
      "name": "Montserrat Alegret"
    },
    {
      "affs": [
        0
      ],
      "name": "Oscar Sotolongo-Grau"
    },
    {
      "affs": [
        0
      ],
      "name": "Amanda Cano"
    },
    {
      "affs": [
        0
      ],
      "name": "Marta Marquié"
    },
    {
      "affs": [
        0
      ],
      "name": "Sergi Valero"
    },
    {
      "affs": [
        1
      ],
      "name": "Miguel Calero"
    },
    {
      "affs": [
        1
      ],
      "name": "Alberto Rábano"
    },
    {
      "affs": [
        2
      ],
      "name": "Ana Belén Pastor"
    },
    {
      "affs": [
        3
      ],
      "name": "Teodoro del Ser"
    },
    {
      "affs": [
        4
      ],
      "name": "Inés Quintela"
    },
    {
      "affs": [
        5
      ],
      "name": "Juan Macías"
    },
    {
      "affs": [
        6
      ],
      "name": "Anaïs Corma-Gómez"
    },
    {
      "affs": [
        6
      ],
      "name": "Juan A. Pineda"
    },
    {
      "affs": [
        1
      ],
      "name": "Emilio Franco-Macías"
    },
    {
      "affs": [
        1
      ],
      "name": "Dolores Buiza-Rueda"
    },
    {
      "affs": [
        7
      ],
      "name": "María Bernal Sánchez-Arjona"
    },
    {
      "affs": [
        8
      ],
      "name": "Jose Luis Royo"
    },
    {
      "affs": [
        9
      ],
      "name": "Silvia Mendoza"
    },
    {
      "affs": [
        1
      ],
      "name": "Carmen Lage"
    },
    {
      "affs": [
        10
      ],
      "name": "Carmen Antúnez"
    },
    {
      "affs": [
        11
      ],
      "name": "Arturo Corbatón-Anchuelo"
    },
    {
      "affs": [
        11
      ],
      "name": "María Teresa Martínez-Larrad"
    },
    {
      "affs": [
        12
      ],
      "name": "Mónica Diez-Fairen"
    },
    {
      "affs": [
        12
      ],
      "name": "Ignacio Alvarez"
    },
    {
      "affs": [
        13
      ],
      "name": "Raquel Huerto Vilas"
    },
    {
      "affs": [
        13
      ],
      "name": "Alfonso Arias Pastor"
    },
    {
      "affs": [
        14
      ],
      "name": "Manuel Menéndez-González"
    },
    {
      "affs": [
        15
      ],
      "name": "Carmen Martínez Rodríguez"
    },
    {
      "affs": [
        15
      ],
      "name": "Irene Rosas Allende"
    },
    {
      "affs": [
        16
      ],
      "name": "Sebastián García-Madrona"
    },
    {
      "affs": [
        1
      ],
      "name": "Ana Frank-García"
    },
    {
      "affs": [
        1
      ],
      "name": "Angel Martín-Montes"
    },
    {
      "affs": [
        17
      ],
      "name": "Miquel Baquero"
    },
    {
      "name": "GR@ACE"
    },
    {
      "name": "DEGESCO"
    },
    {
      "affs": [
        1
      ],
      "name": "Jordi Pérez-Tur"
    },
    {
      "affs": [
        1
      ],
      "name": "María J. Bullido"
    },
    {
      "affs": [
        16
      ],
      "name": "Guillermo Garcia-Ribas"
    },
    {
      "affs": [
        15
      ],
      "name": "Victoria Álvarez"
    },
    {
      "affs": [
        13
      ],
      "name": "Gerard Piñol-Ripoll"
    },
    {
      "affs": [
        18
      ],
      "name": "Pau Pastor"
    },
    {
      "affs": [
        1
      ],
      "name": "Eloy Rodriguez-Rodriguez"
    },
    {
      "affs": [
        9
      ],
      "name": "Jose María García-Alberca"
    },
    {
      "affs": [
        1
      ],
      "name": "Pablo Mir"
    },
    {
      "affs": [
        19
      ],
      "name": "Luis M. Real"
    },
    {
      "affs": [
        1
      ],
      "name": "Miguel Medina"
    },
    {
      "affs": [
        20
      ],
      "name": "María Eugenia Sáez"
    },
    {
      "affs": [
        21
      ],
      "name": "Ángel Carracedo"
    },
    {
      "affs": [
        22
      ],
      "name": "Michael T. Heneka"
    },
    {
      "affs": [
        0
      ],
      "name": "Lluís Tàrraga"
    },
    {
      "affs": [
        0
      ],
      "name": "Mercè Boada"
    },
    {
      "affs": [
        1
      ],
      "name": "Pascual Sánchez-Juan"
    },
    {
      "affs": [
        0
      ],
      "name": "M. Victoria Fernández"
    },
    {
      "affs": [
        23
      ],
      "name": "Sven J. van der Lee"
    },
    {
      "affs": [
        0
      ],
      "name": "Agustín Ruiz"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/5r3276cn004d2.bib",
  "cited_by": 0,
  "doi": "10.1038/s41525-026-00589-6",
  "fulltext_url": "https://doi.org/10.1038/s41525-026-00589-6",
  "id": "5r3276cn004d2",
  "issns": [
    "2056-7944"
  ],
  "landing_url": "https://doi.org/10.1038/s41525-026-00589-6",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "QH426-470"
    ],
    [
      "lcc",
      "R"
    ],
    [
      "openalex",
      "1311|Genomic variations and chromosomal abnormalities"
    ]
  ],
  "openalex": "W7166652584",
  "pdf_url": "https://www.nature.com/articles/s41525-026-00589-6_reference.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-06-01",
  "publisher": "Nature Portfolio",
  "ris": "https://research.draconitic.com/paper/5r3276cn004d2.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:46:11Z",
      "native_id": "9d3a516a4ebd46a49b776f1a759af3b4",
      "source": "doaj",
      "url": "https://doi.org/10.1038/s41525-026-00589-6"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genomic variations and chromosomal abnormalities",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Landscape of copy number variants in Spanish people with dementia",
  "title_text": "Landscape of copy number variants in Spanish people with dementia",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:46:11Z",
  "url": "https://research.draconitic.com/paper/5r3276cn004d2",
  "venue": "npj Genomic Medicine",
  "versions": []
}