Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

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dc.contributor.authorde-Rojas, Itziar
dc.contributor.authorMoreno-Grau, Sonia
dc.contributor.authorTesi, Niccolo
dc.contributor.authorGrenier-Boley, Benjamin
dc.contributor.authorAndrade, Victor
dc.contributor.authorJansen, Iris E
dc.contributor.authorPedersen, Nancy L
dc.contributor.authorStringa, Najada
dc.contributor.authorZettergren, Anna
dc.contributor.authorHernández, Isabel
dc.contributor.authorMontrreal, Laura
dc.contributor.authorAntúnez, Carmen
dc.contributor.authorAntonell, Anna
dc.contributor.authorTankard, Rick M
dc.contributor.authorBis, Joshua C
dc.contributor.authorSims, Rebecca
dc.contributor.authorBellenguez, Céline
dc.contributor.authorQuintela, Inés
dc.contributor.authorGonzález-Perez, Antonio
dc.contributor.authorCalero, Miguel
dc.contributor.authorFranco-Macias, Emilio
dc.contributor.authorMacias, Juan
dc.contributor.authorBlesa, Rafael
dc.contributor.authorCervera-Carles, Laura
dc.contributor.authorMenendez-Gonzalez, Manuel
dc.contributor.authorFrank-Garcia, Ana
dc.contributor.authorRoyo, Jose Luis
dc.contributor.authorMoreno, Fermin
dc.contributor.authorHuerto-Vilas, Raquel
dc.contributor.authorBaquero, Miquel
dc.contributor.authorDiez-Fairen, Monica
dc.contributor.authorLage, Carmen
dc.contributor.authorGarcia-Madrona, Sebastian
dc.contributor.authorGarcia-Gonzalez, Pablo
dc.contributor.authorAlarcon-Martin, Emilio
dc.contributor.authorValero, Sergi
dc.contributor.authorSotolongo-Grau, Oscar
dc.contributor.authorUllgren, Abbe
dc.contributor.authorNaj, Adam C
dc.contributor.authorLemstra, Afina W
dc.contributor.authorBenaque, Alba
dc.contributor.authorPerez-Cordon, Alba
dc.contributor.authorBenussi, Alberto
dc.contributor.authorRabano, Alberto
dc.contributor.authorPadovani, Alessandro
dc.contributor.authorSquassina, Alessio
dc.contributor.authorde-Mendonça, Alexandre
dc.contributor.authorArias-Pastor, Alfonso
dc.contributor.authorKok, Almar A L
dc.contributor.authorMeggy, Alun
dc.contributor.authorPastor, Ana Belen
dc.contributor.authorEspinosa, Ana
dc.contributor.authorCorma-Gomez, Anaïs
dc.contributor.authorMartin-Montes, Angel
dc.contributor.authorSanabria, Angela
dc.contributor.authorDeStefano, Anita L
dc.contributor.authorSchneider, Anja
dc.contributor.authorHaapasalo, Annakaisa
dc.contributor.authorKinhult-Ståhlbom, Anne
dc.contributor.authorTybjærg-Hansen, Anne
dc.contributor.authorHartmann, Annette M
dc.contributor.authorSpottke, Annika
dc.contributor.authorCorbaton-Anchuelo, Arturo
dc.contributor.authorRongve, Arvid
dc.contributor.authorBorroni, Barbara
dc.contributor.authorArosio, Beatrice
dc.contributor.authorNacmias, Benedetta
dc.contributor.authorNordestgaard, Børge G
dc.contributor.authorKunkle, Brian W
dc.contributor.authorCharbonnier, Camille
dc.contributor.authorAbdelnour, Carla
dc.contributor.authorMasullo, Carlo
dc.contributor.authorMartinez-Rodriguez, Carmen
dc.contributor.authorMuñoz-Fernandez, Carmen
dc.contributor.authorDufouil, Carole
dc.contributor.authorGraff, Caroline
dc.contributor.authorFerreira, Catarina B
dc.contributor.authorChillotti, Caterina
dc.contributor.authorReynolds, Chandra A
dc.contributor.authorFenoglio, Chiara
dc.contributor.authorVan-Broeckhoven, Christine
dc.contributor.authorClark, Christopher
dc.contributor.authorPisanu, Claudia
dc.contributor.authorSatizabal, Claudia L
dc.contributor.authorHolmes, Clive
dc.contributor.authorBuiza-Rueda, Dolores
dc.contributor.authorAarsland, Dag
dc.contributor.authorRujescu, Dan
dc.contributor.authorAlcolea, Daniel
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorWallon, David
dc.contributor.authorSeripa, Davide
dc.contributor.authorGrünblatt, Edna
dc.contributor.authorDardiotis, Efthimios
dc.contributor.authorDüzel, Emrah
dc.contributor.authorScarpini, Elio
dc.contributor.authorConti, Elisa
dc.contributor.authorRubino, Elisa
dc.contributor.authorGelpi, Ellen
dc.contributor.authorRodriguez-Rodriguez, Eloy
dc.contributor.authorDuron, Emmanuelle
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorFerri, Evelyn
dc.contributor.authorTagliavini, Fabrizio
dc.contributor.authorKüçükali, Fahri
dc.contributor.authorPasquier, Florence
dc.contributor.authorSanchez-Garcia, Florentino
dc.contributor.authorMangialasche, Francesca
dc.contributor.authorJessen, Frank
dc.contributor.authorNicolas, Gaël
dc.contributor.authorSelbæk, Geir
dc.contributor.authorOrtega, Gemma
dc.contributor.authorChêne, Geneviève
dc.contributor.authorHadjigeorgiou, Georgios
dc.contributor.authorRossi, Giacomina
dc.contributor.authorSpalletta, Gianfranco
dc.contributor.authorGiaccone, Giorgio
dc.contributor.authorGrande, Giulia
dc.contributor.authorBinetti, Giuliano
dc.contributor.authorPapenberg, Goran
dc.contributor.authorHampel, Harald
dc.contributor.authorBailly, Henri
dc.contributor.authorZetterberg, Henrik
dc.contributor.authorSoininen, Hilkka
dc.contributor.authorKarlsson, Ida K
dc.contributor.authorAlvarez, Ignacio
dc.contributor.authorAppollonio, Ildebrando
dc.contributor.authorGiegling, Ina
dc.contributor.authorSkoog, Ingmar
dc.contributor.authorSaltvedt, Ingvild
dc.contributor.authorRainero, Innocenzo
dc.contributor.authorRosas-Allende, Irene
dc.contributor.authorHort, Jakub
dc.contributor.authorDiehl-Schmid, Janine
dc.contributor.authorVan-Dongen, Jasper
dc.contributor.authorVidal, Jean-Sebastien
dc.contributor.authorLehtisalo, Jenni
dc.contributor.authorWiltfang, Jens
dc.contributor.authorThomassen, Jesper Qvist
dc.contributor.authorKornhuber, Johannes
dc.contributor.authorHaines, Jonathan L
dc.contributor.authorVogelgsang, Jonathan
dc.contributor.authorPineda, Juan A
dc.contributor.authorFortea, Juan
dc.contributor.authorPopp, Julius
dc.contributor.authorDeckert, Jürgen
dc.contributor.authorBuerger, Katharina
dc.contributor.authorMorgan, Kevin
dc.contributor.authorFließbach, Klaus
dc.contributor.authorSleegers, Kristel
dc.contributor.authorMolina-Porcel, Laura
dc.contributor.authorKilander, Lena
dc.contributor.authorWeinhold, Leonie
dc.contributor.authorFarrer, Lindsay A
dc.contributor.authorWang, Li-San
dc.contributor.authorKleineidam, Luca
dc.contributor.authorFarotti, Lucia
dc.contributor.authorParnetti, Lucilla
dc.contributor.authorTremolizzo, Lucio
dc.contributor.authorHausner, Lucrezia
dc.contributor.authorBenussi, Luisa
dc.contributor.authorFroelich, Lutz
dc.contributor.authorIkram, M Arfan
dc.contributor.authorDeniz-Naranjo, M Candida
dc.contributor.authorTsolaki, Magda
dc.contributor.authorRosende-Roca, Maitee
dc.contributor.authorLöwenmark, Malin
dc.contributor.authorHulsman, Marc
dc.contributor.authorSpallazzi, Marco
dc.contributor.authorPericak-Vance, Margaret A
dc.contributor.authorEsiri, Margaret
dc.contributor.authorBernal-Sanchez-Arjona, Maria
dc.contributor.authorDalmasso, Maria Carolina
dc.contributor.authorMartinez-Larrad, Maria Teresa
dc.contributor.authorArcaro, Marina
dc.contributor.authorNöthen, Markus M
dc.contributor.authorFernandez-Fuertes, Marta
dc.contributor.authorDichgans, Martin
dc.contributor.authorIngelsson, Martin
dc.contributor.authorHerrmann, Martin J
dc.contributor.authorScherer, Martin
dc.contributor.authorVyhnalek, Martin
dc.contributor.authorKosmidis, Mary H
dc.contributor.authorYannakoulia, Mary
dc.contributor.authorSchmid, Matthias
dc.contributor.authorEwers, Michael
dc.contributor.authorHeneka, Michael T
dc.contributor.authorWagner, Michael
dc.contributor.authorScamosci, Michela
dc.contributor.authorKivipelto, Miia
dc.contributor.authorHiltunen, Mikko
dc.contributor.authorZulaica, Miren
dc.contributor.authorAlegret, Montserrat
dc.contributor.authorFornage, Myriam
dc.contributor.authorRoberto, Natalia
dc.contributor.authorvan-Schoor, Natasja M
dc.contributor.authorSeidu, Nazib M
dc.contributor.authorBanaj, Nerisa
dc.contributor.authorArmstrong, Nicola J
dc.contributor.authorScarmeas, Nikolaos
dc.contributor.authorScherbaum, Norbert
dc.contributor.authorGoldhardt, Oliver
dc.contributor.authorHanon, Oliver
dc.contributor.authorPeters, Oliver
dc.contributor.authorSkrobot, Olivia Anna
dc.contributor.authorQuenez, Olivier
dc.contributor.authorLerch, Ondrej
dc.contributor.authorBossu, Paola
dc.contributor.authorCaffarra, Paolo
dc.contributor.authorDionigi-Rossi, Paolo
dc.contributor.authorSakka, Paraskevi
dc.contributor.authorMecocci, Patrizia
dc.contributor.authorHoffmann, Per
dc.contributor.authorHolmans, Peter A
dc.contributor.authorFischer, Peter
dc.contributor.authorRiederer, Peter
dc.contributor.authorYang, Qiong
dc.contributor.authorMarshall, Rachel
dc.contributor.authorKalaria, Rajesh N
dc.contributor.authorMayeux, Richard
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorCecchetti, Roberta
dc.contributor.authorGhidoni, Roberta
dc.contributor.authorFrikke-Schmidt, Ruth
dc.contributor.authorSorbi, Sandro
dc.contributor.authorHägg, Sara
dc.contributor.authorEngelborghs, Sebastiaan
dc.contributor.authorHelisalmi, Seppo
dc.contributor.authorBotne-Sando, Sigrid
dc.contributor.authorKern, Silke
dc.contributor.authorArchetti, Silvana
dc.contributor.authorBoschi, Silvia
dc.contributor.authorFostinelli, Silvia
dc.contributor.authorGil, Silvia
dc.contributor.authorMendoza, Silvia
dc.contributor.authorMead, Simon
dc.contributor.authorCiccone, Simona
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorHeilmann-Heimbach, Stefanie
dc.contributor.authorRiedel-Heller, Steffi
dc.contributor.authorKuulasmaa, Teemu
dc.contributor.authorDel Ser, Teodoro
dc.contributor.authorLebouvier, Thibaud
dc.contributor.authorPolak, Thomas
dc.contributor.authorNgandu, Tiia
dc.contributor.authorGrimmer, Timo
dc.contributor.authorBessi, Valentina
dc.contributor.authorEscott-Price, Valentina
dc.contributor.authorGiedraitis, Vilmantas
dc.contributor.authorDeramecourt, Vincent
dc.contributor.authorMaier, Wolfgang
dc.contributor.authorJian, Xueqiu
dc.contributor.authorPijnenburg, Yolande A L
dc.contributor.authorKehoe, Patrick Gavin
dc.contributor.authorGarcia-Ribas, Guillermo
dc.contributor.authorSanchez-Juan, Pascual
dc.contributor.authorPastor, Pau
dc.contributor.authorPerez-Tur, Jordi
dc.contributor.authorPiñol-Ripoll, Gerard
dc.contributor.authorLopez-de-Munain, Adolfo
dc.contributor.authorGarcia-Alberca, Jose Maria
dc.contributor.authorBullido, Maria J
dc.contributor.authorAlvarez, Victoria
dc.contributor.authorLleo, Alberto
dc.contributor.authorReal, Luis M
dc.contributor.authorMir, Pablo
dc.contributor.authorMedina, Miguel
dc.contributor.authorScheltens, Philip
dc.contributor.authorHolstege, Henne
dc.contributor.authorMarquie, Marta
dc.contributor.authorSaez, Maria Eugenia
dc.contributor.authorCarracedo, Angel
dc.contributor.authorAmouyel, Philippe
dc.contributor.authorSchellenberg, Gerard D
dc.contributor.authorWilliams, Julie
dc.contributor.authorSeshadri, Sudha
dc.contributor.authorvan-Duijn, Cornelia M
dc.contributor.authorMather, Karen A
dc.contributor.authorSanchez-Valle, Raquel
dc.contributor.authorSerrano-Rios, Manuel
dc.contributor.authorOrellana, Adelina
dc.contributor.authorTarraga, Lluis
dc.contributor.authorBlennow, Kaj
dc.contributor.authorHuisman, Martijn
dc.contributor.authorAndreassen, Ole A
dc.contributor.authorPosthuma, Danielle
dc.contributor.authorClarimon, Jordi
dc.contributor.authorBoada, Merce
dc.contributor.authorvan-der-Flier, Wiesje M
dc.contributor.authorRamirez, Alfredo
dc.contributor.authorLambert, Jean-Charles
dc.contributor.authorvan-der-Lee, Sven J
dc.contributor.authorRuiz, Agustin
dc.contributor.groupEADB contributors
dc.contributor.groupGR@ACE study group
dc.contributor.groupDEGESCO consortium
dc.contributor.groupIGAP (ADGC, CHARGE, EADI, GERAD)
dc.contributor.groupPGC-ALZ consortia
dc.date.accessioned2025-01-07T15:34:57Z
dc.date.available2025-01-07T15:34:57Z
dc.date.issued2021-06-07
dc.description.abstractGenetic 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.
dc.description.versionSi
dc.identifier.citationde Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, et al. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nat Commun. 2021 Jun 7;12(1):3417.
dc.identifier.doi10.1038/s41467-021-22491-8
dc.identifier.essn2041-1723
dc.identifier.pmcPMC8184987
dc.identifier.pmid34099642
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC8184987/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41467-021-22491-8.pdf
dc.identifier.urihttps://hdl.handle.net/10668/27256
dc.issue.number1
dc.journal.titleNature communications
dc.journal.titleabbreviationNat Commun
dc.language.isoen
dc.organizationInstituto de Investigación Biomédica de Sevilla (IBIS)
dc.organizationSAS - Hospital Universitario Virgen de Valme
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.page.number16
dc.provenanceRealizada la curación de contenido 28/03/2025
dc.publisherNature Publishing Group
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, N.I.H., Extramural
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.pubmedtypeValidation Study
dc.relation.publisherversionhttps://doi.org/10.1038/s41467-021-22491-8
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectAge of Onset
dc.subjectAlzheimer Disease
dc.subjectApolipoproteins E
dc.subjectDatasets as Topic
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectMale
dc.subjectPolymorphism, Single Nucleotide
dc.subjectRisk Factors
dc.subject.decsEnfermedad de Alzheimer
dc.subject.decsPuntuación de riesgo genético
dc.subject.decsApolipoproteínas E
dc.subject.decsComprensión
dc.subject.decsAmiloide
dc.subject.decsEstudios de asociación genética
dc.subject.decsApoderado
dc.subject.decsConductores
dc.subject.meshAged
dc.subject.meshAged, 80 and over
dc.subject.meshAmyloid beta-Protein Precursor
dc.subject.meshCase-Control Studies
dc.subject.meshCohort Studies
dc.subject.meshFemale
dc.subject.meshFollow-Up Studies
dc.subject.meshHeterozygote
dc.subject.meshHumans
dc.subject.meshMiddle Aged
dc.subject.meshMultifactorial Inheritance
dc.subject.meshRisk Assessment
dc.titleCommon variants in Alzheimer's disease and risk stratification by polygenic risk scores.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number12

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