Browsing by Author "Cáceres, Alejandro"

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  • A Longitudinal Study on Attention Development in Primary School Children with and without Teacher-Reported Symptoms of ADHD
    Suades González, Elisabet; Forns i Guzman, Joan, 1981-; García Esteban, Raquel; López Vicente, Mònica, 1988-; Esnaola, Mikel; Álvarez Pedrerol, Mar; Júlvez Calvo, Jordi; Cáceres, Alejandro; Basagaña Flores, Xavier; López-Sala, Anna; Sunyer Deu, Jordi (Frontiers, 2017)
    Background: Prospective longitudinal studies are essential in characterizing cognitive trajectories, yet few of them have been reported on the development of attention processes in children. We aimed to explore attention ...
  • Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.
    Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumi, Armand, 1980-; Lopez-Espinosa, Maria-José; Llop, Sabrina; Bustamante Pineda, Mariona; Tiemeier, Henning; Metspalu, Andres; Joshi, Peter K.; Wilsonx, James F.; Reina-Castillón, Judith; Shin, Jean; Pausova, Zdenka; Paus, Tomáš; Sunyer Deu, Jordi; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS) , 2016)
    The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, ...
  • APOE and MS4A6A interact with GnRH signaling in Alzheimer's disease: Enrichment of epistatic effects
    Cáceres, Alejandro; Vargas, José E.; González, Juan Ramón (Wiley, 2017)
    Introduction: It is unknown if risk loci, identified by genome-wide association studies of late-onset Alzheimer's disease (LOAD), are linked to common molecular mechanisms through epistatic effects. Methods: We performed ...
  • Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2
    Pérez Jurado, Luis Alberto; Cáceres, Alejandro; Balagué-Dobón, Laura; Esko, Tõnu; López de Heredia, Miguel de; Quintela Garcia, Ines; Cruz, Raquel; Lapunzina, Pablo Daniel; Carracedo, Ángel; SCOURGE Cohort Group; González, Juan Ramón (Nature Research, 2024)
    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially ...
  • Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis
    Ruiz-Arenas, Carlos; Cáceres, Alejandro; Moreno, Víctor; González, Juan Ramón (BioMed Central, 2019)
    Background: Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unknown ...
  • Extreme downregulation of chromosome Y and cancer risk in men
    Cáceres, Alejandro; Jene, Aina; Esko, Tõnu; Pérez Jurado, Luis Alberto; González, Juan Ramón (Oxford University Press, 2020)
    Background: Understanding the biological differences between sexes in cancer is essential for personalized treatment and prevention. We hypothesized that the extreme downregulation of chromosome Y gene expression (EDY) is ...
  • A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
    González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Cáceres, Alejandro; Pique Regi, Roger; Rothman, Nathaniel; Chanock, Stephen J.; Armengol i Dulcet, Lluís; Pérez Jurado, Luis Alberto (BioMed Central, 2011)
    Background: Mosaicism for copy number and copy neutral chromosomal rearrangements has been recently identified as a relatively common source of genetic variation in the normal population. However its prevalence is poorly ...
  • Female-specific risk of Alzheimer's disease is associated with tau phosphorylation processes: a transcriptome-wide interaction analysis
    Cáceres, Alejandro; González Ruiz, Juan Ramón (Elsevier, 2020)
    The levels of tau phosphorylation differ between sexes in Alzheimer's disease (AD). Transcriptome-wide associations of sex by disease interaction could indicate whether specific genes underlie sex differences in tau ...
  • Following the footprints of polymorphic inversions on SNP data: from detection to association tests
    Cáceres, Alejandro; González Ruiz, Juan Ramón (Oxford University Press, 2015)
    Inversion polymorphisms have important phenotypic and evolutionary consequences in humans. Two different methodologies have been used to infer inversions from SNP dense data, enabling the use of large cohorts for their ...
  • Fraction of exhaled nitric oxide values in childhood are associated with 17q11.2-q12 and 17q12-q21 variants
    van der Valk, Ralf J.P.; Cáceres, Alejandro; Sunyer Deu, Jordi; EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium (Elsevier, 2014)
    BACKGROUND: The fraction of exhaled nitric oxide (Feno) value is a biomarker of eosinophilic airway inflammation and is associated with childhood asthma. Identification of common genetic variants associated with childhood ...
  • Identifying chromosomal subpopulations based on their recombination histories advances the study of the genetic basis of phenotypic traits
    Ruiz Arenas, Carlos, 1990-; Cáceres, Alejandro; López, Marcos; Pelegrí-Sisó, Dolors; González, Josefa; González, Juan Ramón (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)
    Recombination is a main source of genetic variability. However, the potential role of the variation generated by recombination in phenotypic traits, including diseases, remains unexplored because there is currently no ...
  • Independent multiple factor association analysis for multiblock data in imaging genetics
    Vilor Tejedor, Natàlia, 1988-; Ikram, Mohammad Arfan; Roshchupkin, Gennady V.; Cáceres, Alejandro; Alemany, Silvia; Vernooij, Meike W.; Niessen, Wiro J.; Duijn, Cornelia M. van; Sunyer Deu, Jordi; Adams, Hieab H.; González Ruiz, Juan Ramón (Springer, 2019)
    Multivariate methods have the potential to better capture complex relationships that may exist between different biological levels. Multiple Factor Analysis (MFA) is one of the most popular methods to obtain factor scores ...
  • MADloy: robust detection of mosaic loss of chromosome Y from genotype-array-intensity data
    González, Juan Ramón; López Sánchez, Marcos, 1986-; Cáceres, Alejandro; Puig, Pere; Esko, Tõnu; Pérez Jurado, Luis Alberto (BioMed Central, 2020)
    Background: Accurate protocols and methods to robustly detect the mosaic loss of chromosome Y (mLOY) are needed given its reported role in cancer, several age-related disorders and overall male mortality. Intensity SNP-array ...
  • Prenatal environmental exposures associated with sex differences in childhood obesity and neurodevelopment
    Cáceres, Alejandro; Carreras Gallo, Natàlia; Bustamante Pineda, Mariona; Maitre, Léa; Nieuwenhuijsen, Mark J.; Stratakis, Nikos; Urquiza, José M.; Casas Sanahuja, Maribel; Vrijheid, Martine; González, Juan Ramón (BioMed Central, 2023)
    Background: Obesity and neurodevelopmental delay are complex traits that often co-occur and differ between boys and girls. Prenatal exposures are believed to influence children's obesity, but it is unknown whether exposures ...
  • ScoreInvHap: inversion genotyping for genome-wide association studies
    Ruiz-Arenas, Carlos; Cáceres, Alejandro; López Sánchez, Marcos, 1986-; Tolosana, Ignacio; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS), 2019)
    Polymorphic inversions contribute to adaptation and phenotypic variation. However, large multi-centric association studies of inversions remain challenging. We present scoreInvHap, a method to genotype inversions from SNP ...
  • Strategies for integrated analysis in imaging genetics studies
    Vilor Tejedor, Natàlia, 1988-; Alemany, Silvia; Cáceres, Alejandro; Bustamante Pineda, Mariona; Pujol Martí, Jesús, 1981-; Sunyer Deu, Jordi; González Ruiz, Juan Ramón (Elsevier, 2018)
    Imaging Genetics (IG) integrates neuroimaging and genomic data from the same individual, deepening our knowledge of the biological mechanisms behind neurodevelopmental domains and neurological disorders. Although the ...
  • The early-life exposome modulates the effect of polymorphic inversions on DNA methylation
    Carreras-Gallo, Natàlia; Cáceres, Alejandro; Balagué-Dobón, Laura; Ruiz-Arenas, Carlos; Casas Sanahuja, Maribel; Maitre, Léa; Nieuwenhuijsen, Mark J.; Stratakis, Nikos; Urquiza, José M.; Bustamante Pineda, Mariona; Vrijheid, Martine; Pérez Jurado, Luis Alberto; Gonzalez, Juan Ramon (Nature Research, 2022)
    Polymorphic genomic inversions are chromosomal variants with intrinsic variability that play important roles in evolution, environmental adaptation, and complex traits. We investigated the DNA methylation patterns of three ...

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