Landscape of copy number variants in Spanish people with dementia

@article{rojas2026landscape,
  title = {{Landscape of copy number variants in Spanish people with dementia}},
  author = {Itziar de Rojas and Pablo García-González and Clàudia Olivé and Raquel Puerta and Laura Montrreal and Montserrat Alegret and Oscar Sotolongo-Grau and Amanda Cano and Marta Marquié and Sergi Valero and Miguel Calero and Alberto Rábano and Ana Belén Pastor and Teodoro del Ser and Inés Quintela and Juan Macías and Anaïs Corma-Gómez and Juan A. Pineda and Emilio Franco-Macías and Dolores Buiza-Rueda and María Bernal Sánchez-Arjona and Jose Luis Royo and Silvia Mendoza and Carmen Lage and Carmen Antúnez and Arturo Corbatón-Anchuelo and María Teresa Martínez-Larrad and Mónica Diez-Fairen and Ignacio Alvarez and Raquel Huerto Vilas and Alfonso Arias Pastor and Manuel Menéndez-González and Carmen Martínez Rodríguez and Irene Rosas Allende and Sebastián García-Madrona and Ana Frank-García and Angel Martín-Montes and Miquel Baquero and GR@ACE and DEGESCO and Jordi Pérez-Tur and María J. Bullido and Guillermo Garcia-Ribas and Victoria Álvarez and Gerard Piñol-Ripoll and Pau Pastor and Eloy Rodriguez-Rodriguez and Jose María García-Alberca and Pablo Mir and Luis M. Real and Miguel Medina and María Eugenia Sáez and Ángel Carracedo and Michael T. Heneka and Lluís Tàrraga and Mercè Boada and Pascual Sánchez-Juan and M. Victoria Fernández and Sven J. van der Lee and Agustín Ruiz},
  journal = {npj Genomic Medicine},
  year = {2026},
  month = jun,
  doi = {10.1038/s41525-026-00589-6},
  url = {https://doi.org/10.1038/s41525-026-00589-6},
  note = {CC BY},
}

TY  - JOUR
TI  - Landscape of copy number variants in Spanish people with dementia
AU  - Itziar de Rojas
AU  - Pablo García-González
AU  - Clàudia Olivé
AU  - Raquel Puerta
AU  - Laura Montrreal
AU  - Montserrat Alegret
AU  - Oscar Sotolongo-Grau
AU  - Amanda Cano
AU  - Marta Marquié
AU  - Sergi Valero
AU  - Miguel Calero
AU  - Alberto Rábano
AU  - Ana Belén Pastor
AU  - Teodoro del Ser
AU  - Inés Quintela
AU  - Juan Macías
AU  - Anaïs Corma-Gómez
AU  - Juan A. Pineda
AU  - Emilio Franco-Macías
AU  - Dolores Buiza-Rueda
AU  - María Bernal Sánchez-Arjona
AU  - Jose Luis Royo
AU  - Silvia Mendoza
AU  - Carmen Lage
AU  - Carmen Antúnez
AU  - Arturo Corbatón-Anchuelo
AU  - María Teresa Martínez-Larrad
AU  - Mónica Diez-Fairen
AU  - Ignacio Alvarez
AU  - Raquel Huerto Vilas
AU  - Alfonso Arias Pastor
AU  - Manuel Menéndez-González
AU  - Carmen Martínez Rodríguez
AU  - Irene Rosas Allende
AU  - Sebastián García-Madrona
AU  - Ana Frank-García
AU  - Angel Martín-Montes
AU  - Miquel Baquero
AU  - GR@ACE
AU  - DEGESCO
AU  - Jordi Pérez-Tur
AU  - María J. Bullido
AU  - Guillermo Garcia-Ribas
AU  - Victoria Álvarez
AU  - Gerard Piñol-Ripoll
AU  - Pau Pastor
AU  - Eloy Rodriguez-Rodriguez
AU  - Jose María García-Alberca
AU  - Pablo Mir
AU  - Luis M. Real
AU  - Miguel Medina
AU  - María Eugenia Sáez
AU  - Ángel Carracedo
AU  - Michael T. Heneka
AU  - Lluís Tàrraga
AU  - Mercè Boada
AU  - Pascual Sánchez-Juan
AU  - M. Victoria Fernández
AU  - Sven J. van der Lee
AU  - Agustín Ruiz
PY  - 2026
DA  - 2026/06/01
JO  - npj Genomic Medicine
DO  - 10.1038/s41525-026-00589-6
UR  - https://doi.org/10.1038/s41525-026-00589-6
AB  - 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.
SN  - 2056-7944
ER  -