Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
348Citations signalées, ce qui n’est pas une note de qualité
249Institutions déclarées
21Pays d’affiliation déclarés
Rattachement africain : es, nl, fr, de, se, au, us, gb, it, pt, fi, dk, no, be, ch, gr, at, cy, cz, ar, bg. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- Date Crossref
- 07/06/2021
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Instituto de Salud Carlos IIIBiomedical Research Networking Center on Neurodegenerative DiseasesFundació ACEAmsterdam NeuroscienceAmsterdam University Medical CentersVrije Universiteit AmsterdamDelft University of TechnologyInsermUniversité de LilleInstitut Pasteur de LilleCentre Hospitalier Universitaire de LilleUniversity of CologneKarolinska InstitutetUniversity of GothenburgHospital Universitario Virgen de la ArrixacaUniversitat de BarcelonaMurdoch UniversityUniversity of WashingtonCardiff UniversityUniversidade de Santiago de CompostelaFundación Pública Galega de Medicina XenómicaCentro Andaluz de Biología del DesarrolloUnidad Funcional de Investigación de Enfermedades CrónicasFundacion Centro De Investigacion De Enfermedades NeurologicasInstituto de Biomedicina de SevillaHospital Universitario Virgen del RocíoUniversidad de SevillaHospital Universitario de ValmeUniversitat Autònoma de BarcelonaHospital de Sant PauUniversidad de OviedoHospital Universitario Central de AsturiasInstituto de Investigación Sanitaria del Principado de AsturiasHospital Universitario La PazHospital La Paz Institute for Health ResearchUniversidad Autónoma de MadridUniversidad de MálagaBiogipuzkoa Health Research InstituteHospital Universitari de Santa MariaInstituto de Investigación Biomédica de LleidaHospital Universitari i Politècnic La FeUniversity Hospital Mútua de TerrassaMútua TerrassaUniversidad de CantabriaMarqués de Valdecilla University HospitalInstituto de Investigación Marqués de ValdecillaInstituto Ramón y Cajal de Investigación SanitariaHospital Universitario Ramón y CajalKarolinska University HospitalUniversity of PennsylvaniaUniversity of BresciaUniversity of CagliariUniversity of LisbonUK Dementia Research InstituteBoston UniversityGerman Center for Neurodegenerative DiseasesUniversity of Eastern FinlandUniversity of CopenhagenRigshospitaletMartin Luther University Halle-WittenbergUniversity of BonnCentro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas AsociadasInstituto de Investigación Sanitaria del Hospital Clínico San CarlosPrivatsykehuset HaugesundFonna Hospital TrustUniversity of BergenUniversity of MilanFondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoDon Carlo Gnocchi FoundationUniversity of FlorenceHerlev HospitalGentofte HospitalUniversity of MiamiDr. John T. Macdonald FoundationNormandie UniversitéGénomique du cancer et du cerveauUniversité de Rouen NormandieUniversità Cattolica del Sacro CuoreHospital Universitario De CabueñesHospital Universitario de Gran Canaria Doctor NegrínUniversité de BordeauxCentre Hospitalier Universitaire de BordeauxBordeaux Population HealthCentre d'Investigation Clinique Plurithématique de BordeauxUniversity of California, RiversideFerrari (Italy)University of AntwerpVIB-UAntwerp Center for Molecular NeurologyUniversity of ZurichThe University of Texas at San Antonio Health Science CenterInstitute for Neurodegenerative DisordersThe University of Texas Health Science Center at HoustonUniversity of SouthamptonKing's College LondonStavanger University HospitalCasa Sollievo della SofferenzaETH ZurichUniversity Hospital ZurichSwiss Integrative Center for Human HealthUniversity of ThessalyOtto-von-Guericke-Universität MagdeburgUniversity of Milano-BicoccaAzienda Ospedaliera Citta' della Salute e della Scienza di TorinoBanc de Sang i TeixitsConsorci Institut D'Investigacions Biomediques August Pi I SunyerMedical University of ViennaUniversité de Versailles Saint-Quentin-en-YvelinesUniversité Paris-SaclayAssistance Publique – Hôpitaux de ParisCentre de recherche en Epidémiologie et Santé des PopulationsHôpital BrocaHôpital Paul-BrousseBaylor College of MedicineFondazione IRCCS Istituto Neurologico Carlo BestaCologne Excellence Cluster on Cellular Stress Responses in Aging Associated DiseasesOslo University HospitalUniversity of OsloSykehuset i VestfoldUniversity of CyprusFondazione Santa LuciaIstituti di Ricovero e Cura a Carattere ScientificoStockholm UniversityCentro San Giovanni di Dio FatebenefratelliSorbonne UniversitéPitié-Salpêtrière HospitalAlzheimer Precision MedicineDélégation Paris 5Université Paris CitéSorbonne Paris CitéMaladie d'Alzheimer : marqueurs génétiques et vasculaires, neuropsychologieSahlgrenska University HospitalUniversity College LondonKuopio University HospitalJönköping UniversityAzienda Ospedaliera San GerardoNorwegian University of Science and TechnologySt Olav's University HospitalUniversity of TurinCharles UniversityUniversity Hospital BrnoSt. Anne's University Hospital BrnoTUM KlinikumTechnical University of MunichFinnish Institute for Health and WelfareUniversity of AveiroFriedrich-Alexander-Universität Erlangen-NürnbergUniversitätsklinikum ErlangenCase Western Reserve UniversityHarvard UniversityMcLean HospitalUniversity of LausanneInstitut für Schlaganfall- und DemenzforschungLudwig-Maximilians-Universität MünchenUniversity of NottinghamUniversity Hospital BonnZimmer Biomet (Germany)Boston Public SchoolsUniversity of PerugiaHeidelberg UniversityUniversity Hospital HeidelbergCentral Institute of Mental HealthErasmus MCAristotle University of ThessalonikiScience OxfordMunich Cluster for Systems NeurologyUniversität HamburgUniversity Medical Center Hamburg-EppendorfHarokopio University of AthensStockholm South General HospitalImperial College LondonBrown FoundationNational and Kapodistrian University of AthensEginition HospitalColumbia UniversityUniversity of Duisburg-EssenCharité - Universitätsmedizin BerlinSouthmead HospitalUniversity of BristolUniversity of ParmaGreek Association of Alzheimer's Disease and Related DisordersUniversity Hospital of BaselDonauspitalUniversitätsklinikum WürzburgNewcastle Hospitals - Campus for Ageing and VitalityNewcastle UniversityKU LeuvenVrije Universiteit BrusselUniversitair Ziekenhuis BrusselMRC Prion UnitLeipzig UniversityAzienda Ospedaliero-Universitaria CareggiUniversity of OxfordOptimat (United Kingdom)Agostino Gemelli University PolyclinicUniversity of ManchesterSalford Royal HospitalCommissariat à l'Énergie Atomique et aux Énergies AlternativesCentre National de Recherche en Génomique HumaineCEA Paris-SaclayQueen's University BelfastUniversity of Bari Aldo MoroStatistics AustriaHospital Donación Francisco SantojanniClínica RementeríaHertie Institute for Clinical Brain ResearchUniversity of TübingenConsejo Nacional de Investigaciones Científicas y TécnicasInstitute of Mental HealthMedical University of SofiaFundación Instituto LeloirInstituto de Neurología CognitivaSalford Royal NHS Foundation TrustUniversity of HelsinkiEscuela Nacional de SanidadNational Hospital for Neurology and NeurosurgeryHospital El CruceMathys (Netherlands)National University of JujuyUniversity of OuluOulu University HospitalLMU KlinikumFrenchay HospitalUniversity of RostockHelsinki University HospitalNa Homolce HospitalHospital Clínico Universitario de ValenciaHospital Universitario Son EspasesCentro de Biología Molecular Severo OchoaUniversity of the Basque CountryFundación para la Formación e Investigación Sanitarias de la Región de MurciaFundacion CITA AlzheimerNavarrabiomedPasqual Maragall FoundationBarcelonaβeta Brain Research CenterInstituto de Biomedicina de ValenciaInstituto de Investigación Sanitaria La FeHospital Universitario de La PrincesaBangor UniversityUniversity of LiverpoolCzech Academy of Sciences, Institute of PsychologyUniversity of CambridgeCambridge SchoolUniversity of Newcastle AustraliaUniversity of StirlingUniversity of ExeterSwansea UniversityUNSW SydneyCentre for Healthy Brain AgeingNeuroscience Research Australia
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
Genetic Associations and EpidemiologyLiver Disease Diagnosis and TreatmentNutritional Studies and Diet