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Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening

dc.rights.licenseopenen_US
dc.contributor.authorNICOLAS, Gael
dc.contributor.authorZAREA, Aline
dc.contributor.authorLACOUR, Morgane
dc.contributor.authorQUENEZ, Olivier
dc.contributor.authorROUSSEAU, Stephane
dc.contributor.authorRICHARD, Anne-Claire
dc.contributor.authorBONNEVALLE, Antoine
dc.contributor.authorSCHRAMM, Catherine
dc.contributor.authorOLASO, Robert
dc.contributor.authorSANDRON, Florian
dc.contributor.authorBOLAND, Anne
dc.contributor.authorDELEUZE, Jean-Francois
dc.contributor.authorANDRIUTA, Daniela
dc.contributor.authorANTHONY, Pierre
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorAURIACOMBE, Sophie
dc.contributor.authorBALAGEAS, Anna-Chloe
dc.contributor.authorBALLAN, Guillaume
dc.contributor.authorBARBAY, Melanie
dc.contributor.authorBEJOT, Yannick
dc.contributor.authorBELLIARD, Serge
dc.contributor.authorBENAITEAU, Marie
dc.contributor.authorBENNYS, Karim
dc.contributor.authorBOMBOIS, Stephanie
dc.contributor.authorBOUTOLEAU-BRETONNIERE, Claire
dc.contributor.authorBRANGER, Pierre
dc.contributor.authorCARLIER, Jasmine
dc.contributor.authorCARTZ-PIVER, Leslie
dc.contributor.authorCASSAGNAUD, Pascaline
dc.contributor.authorCECCALDI, Mathieu-Pierre
dc.contributor.authorCHAUVIRE, Valerie
dc.contributor.authorCHEN, Yaohua
dc.contributor.authorCOGEZ, Julien
dc.contributor.authorCOGNAT, Emmanuel
dc.contributor.authorCONTEGAL-CALLIER, Fabienne
dc.contributor.authorCORNEILLE, Lea
dc.contributor.authorCOURATIER, Philippe
dc.contributor.authorCRETIN, Benjamin
dc.contributor.authorCRINQUETTE, Charlotte
dc.contributor.authorDAURIAT, Benjamin
dc.contributor.authorDAUTRICOURT, Sophie
dc.contributor.authorDE LA SAYETTE, Vincent
dc.contributor.authorDE LIEGE, Astrid
dc.contributor.authorDEFFOND, Didier
dc.contributor.authorDEMURGER, Florence
dc.contributor.authorDERAMECOURT, Vincent
dc.contributor.authorDEROLLEZ, Celine
dc.contributor.authorDIONET, Elsa
dc.contributor.authorDOCO FENZY, Martine
dc.contributor.authorDUMURGIER, Julien
dc.contributor.authorDUTRAY, Anais
dc.contributor.authorETCHARRY-BOUYX, Frederique
dc.contributor.authorFORMAGLIO, Maite
dc.contributor.authorGABELLE, Audrey
dc.contributor.authorGAINCHE-SALMON, Anne
dc.contributor.authorGODEFROY, Olivier
dc.contributor.authorGRABER, Mathilde
dc.contributor.authorGREGOIRE, Chloe
dc.contributor.authorGRIMALDI, Stephan
dc.contributor.authorGUENIAT, Julien
dc.contributor.authorGUERIOT, Claude
dc.contributor.authorGUILLET-PICHON, Virginie
dc.contributor.authorHAFFEN, Sophie
dc.contributor.authorHANTA, Cezara-Roxana
dc.contributor.authorHARDY, Clemence
dc.contributor.authorHAUTECLOQUE, Geoffroy
dc.contributor.authorHEITZ, Camille
dc.contributor.authorHOURREGUE, Claire
dc.contributor.authorJONVEAUX, Therese
dc.contributor.authorJURICI, Snejana
dc.contributor.authorKORIC, Lejla
dc.contributor.authorKROLAK-SALMON, Pierre
dc.contributor.authorLAGARDE, Julien
dc.contributor.authorLANOISELEE, Helene-Marie
dc.contributor.authorLAURENS, Brice
dc.contributor.authorLE BER, Isabelle
dc.contributor.authorLE GUYADER, Gwenael
dc.contributor.authorLEBLANC, Amelie
dc.contributor.authorLEBOUVIER, Thibaud
dc.contributor.authorLEVY, Richard
dc.contributor.authorLIPPI, Anais
dc.contributor.authorMACKOWIAK, Marie-Anne
dc.contributor.authorMAGNIN, Eloi
dc.contributor.authorMARELLI, Cecilia
dc.contributor.authorMARTINAUD, Olivier
dc.contributor.authorMAUREILLE, Aurelien
dc.contributor.authorMIGLIACCIO, Raffaella
dc.contributor.authorMILONGO-RIGAL, Emilie
dc.contributor.authorMOHR, Sophie
dc.contributor.authorMOLLION, Helene
dc.contributor.authorMORIN, Alexandre
dc.contributor.authorNIVELLE, Julia
dc.contributor.authorNOIRAY, Camille
dc.contributor.authorOLIVIERI, Pauline
dc.contributor.authorPAQUET, Claire
dc.contributor.authorPARIENTE, Jeremie
dc.contributor.authorPASQUIER, Florence
dc.contributor.authorPERRON, Alexandre
dc.contributor.authorPHILIPPI, Nathalie
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
dc.contributor.authorPLANCHE, Vincent
dc.contributor.authorPOUCLET-COURTEMANCHE, Helene
dc.contributor.authorRAFIQ, Marie
dc.contributor.authorROLLIN-SILLAIRE, Adeline
dc.contributor.authorROUE-JAGOT, Carole
dc.contributor.authorSARACINO, Dario
dc.contributor.authorSARAZIN, Marie
dc.contributor.authorSAUVEE, Mathilde
dc.contributor.authorSELLAL, Francois
dc.contributor.authorTEICHMANN, Marc
dc.contributor.authorTHAUVIN, Christel
dc.contributor.authorTHOMAS, Quentin
dc.contributor.authorTISSERAND, Camille
dc.contributor.authorTURPINAT, Cedric
dc.contributor.authorVAN DAMME, Laurene
dc.contributor.authorVERCRUYSSE, Olivier
dc.contributor.authorVILLAIN, Nicolas
dc.contributor.authorWAGEMANN, Nathalie
dc.contributor.authorCHARBONNIER, Camille
dc.contributor.authorWALLON, David
dc.date.accessioned2024-02-21T12:41:56Z
dc.date.available2024-02-21T12:41:56Z
dc.date.issued2024-01-24
dc.identifier.issn1098-3600en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188297
dc.description.abstractEnPURPOSE: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). METHODS: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) ≤65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92). RESULTS: Twenty-one patients carried a LP/P variant in a Mendelian gene (all with EOAD, 3.4%), 20/21 affected APP, PSEN1 or PSEN2. LP/P variant detection rates in EOAD ranged from 1.7% to 11.6% based on AOO and pedigree structure. Risk factors were found in 69.5% of the remaining 679 patients, including 83 (12.2%) being heterozygotes for rare risk variants, in decreasing order of frequency, in TREM2, ABCA7, ATP8B4, SORL1 and ABCA1, including 5 heterozygotes for multiple rare risk variants, suggesting non-monogenic inheritance, even in some autosomal-dominant-like pedigrees. CONCLUSION: We suggest that genetic screening should be proposed to all EOAD patients and should no longer be prioritized based on pedigree structure.
dc.description.sponsorshipOrganisation et montée en puissance d'une Infrastructure Nationale de Génomiqueen_US
dc.language.isoENen_US
dc.subject.enAlzheimer disease
dc.subject.enrisk variant
dc.subject.enpathogenic variant
dc.subject.enexome
dc.subject.enclinical utility
dc.title.enAssessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening
dc.title.alternativeGenet Meden_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.gim.2024.101082en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed38281098en_US
bordeaux.journalGenetics in Medicineen_US
bordeaux.page101082en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.institutionCNRS
bordeaux.teamACTIVE_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDFONDATION ALZHEIMERen_US
hal.identifierhal-04470892
hal.version1
hal.date.transferred2024-02-21T12:42:13Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Genetics%20in%20Medicine&amp;rft.date=2024-01-24&amp;rft.spage=101082&amp;rft.epage=101082&amp;rft.eissn=1098-3600&amp;rft.issn=1098-3600&amp;rft.au=NICOLAS,%20Gael&amp;ZAREA,%20Aline&amp;LACOUR,%20Morgane&amp;QUENEZ,%20Olivier&amp;ROUSSEAU,%20Stephane&amp;rft.genre=article


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