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Genome sequence analyses identify novel risk loci for multiple system atrophy

dc.rights.licenseopenen_US
dc.contributor.authorCHIA, Ruth
dc.contributor.authorRAY, Anindita
dc.contributor.authorSHAH, Zalak
dc.contributor.authorDING, Jinhui
dc.contributor.authorRUFFO, Paola
dc.contributor.authorFUJITA, Masashi
dc.contributor.authorMENON, Vilas
dc.contributor.authorSAEZ-ATIENZAR, Sara
dc.contributor.authorREHO, Paolo
dc.contributor.authorKAIVOLA, Karri
dc.contributor.authorWALTON, Ronald L
dc.contributor.authorREYNOLDS, Regina H
dc.contributor.authorKARRA, Ramita
dc.contributor.authorSAIT, Shaimaa
dc.contributor.authorAKCIMEN, Fulya
dc.contributor.authorDIEZ-FAIREN, Monica
dc.contributor.authorALVAREZ, Ignacio
dc.contributor.authorFANCIULLI, Alessandra
dc.contributor.authorSTEFANOVA, Nadia
dc.contributor.authorSEPPI, Klaus
dc.contributor.authorDUERR, Susanne
dc.contributor.authorLEYS, Fabian
dc.contributor.authorKRISMER, Florian
dc.contributor.authorSIDOROFF, Victoria
dc.contributor.authorZIMPRICH, Alexander
dc.contributor.authorPIRKER, Walter
dc.contributor.authorRASCOL, Olivier
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorSAMIER FOUBERT, Alexandra
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
dc.contributor.authorMEISSNER, Wassilios
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
dc.contributor.authorTISON, Francois
dc.contributor.authorPAVY-LE TRAON, Anne
dc.contributor.authorPELLECCHIA, Maria Teresa
dc.contributor.authorBARONE, Paolo
dc.contributor.authorRUSSILLO, Maria Claudia
dc.contributor.authorMARIN-LAHOZ, Juan
dc.contributor.authorKULISEVSKY, Jaime
dc.contributor.authorTORRES, Soraya
dc.contributor.authorMIR, Pablo
dc.contributor.authorPERINAN, Maria Teresa
dc.contributor.authorPROUKAKIS, Christos
dc.contributor.authorCHELBAN, Viorica
dc.contributor.authorWU, Lesley
dc.contributor.authorGOH, Yee Y
dc.contributor.authorPARKKINEN, Laura
dc.contributor.authorHU, Michele T
dc.contributor.authorKOBYLECKI, Christopher
dc.contributor.authorSAXON, Jennifer A
dc.contributor.authorROLLINSON, Sara
dc.contributor.authorGARLAND, Emily
dc.contributor.authorBIAGGIONI, Italo
dc.contributor.authorLITVAN, Irene
dc.contributor.authorRUBIO, Ileana
dc.contributor.authorALCALAY, Roy N
dc.contributor.authorKWEI, Kimberly T
dc.contributor.authorLUBBE, Steven J
dc.contributor.authorMAO, Qinwen
dc.contributor.authorFLANAGAN, Margaret E
dc.contributor.authorCASTELLANI, Rudolph J
dc.contributor.authorKHURANA, Vikram
dc.contributor.authorNDAYISABA, Alain
dc.contributor.authorCALVO, Andrea
dc.contributor.authorMORA, Gabriele
dc.contributor.authorCANOSA, Antonio
dc.contributor.authorFLORIS, Gianluca
dc.contributor.authorBOHANNAN, Ryan C
dc.contributor.authorMOORE, Anni
dc.contributor.authorNORCLIFFE-KAUFMANN, Lucy
dc.contributor.authorPALMA, Jose-Alberto
dc.contributor.authorKAUFMANN, Horacio
dc.contributor.authorKIM, Changyoun
dc.contributor.authorIBA, Michiyo
dc.contributor.authorMASLIAH, Eliezer
dc.contributor.authorDAWSON, Ted M
dc.contributor.authorROSENTHAL, Liana S
dc.contributor.authorPANTELYAT, Alexander
dc.contributor.authorALBERT, Marilyn S
dc.contributor.authorPLETNIKOVA, Olga
dc.contributor.authorTRONCOSO, Juan C
dc.contributor.authorINFANTE, Jon
dc.contributor.authorLAGE, Carmen
dc.contributor.authorSANCHEZ-JUAN, Pascual
dc.contributor.authorSERRANO, Geidy E
dc.contributor.authorBEACH, Thomas G
dc.contributor.authorPASTOR, Pau
dc.contributor.authorMORRIS, Huw R
dc.contributor.authorALBANI, Diego
dc.contributor.authorCLARIMON, Jordi
dc.contributor.authorWENNING, Gregor K
dc.contributor.authorHARDY, John A
dc.contributor.authorRYTEN, Mina
dc.contributor.authorTOPOL, Eric
dc.contributor.authorTORKAMANI, Ali
dc.contributor.authorCHIO, Adriano
dc.contributor.authorBENNETT, David A
dc.contributor.authorDE JAGER, Philip L
dc.contributor.authorLOW, Philip A
dc.contributor.authorSINGER, Wolfgang
dc.contributor.authorCHESHIRE, William P
dc.contributor.authorWSZOLEK, Zbigniew K
dc.contributor.authorDICKSON, Dennis W
dc.contributor.authorTRAYNOR, Bryan J
dc.contributor.authorGIBBS, J Raphael
dc.contributor.authorDALGARD, Clifton L
dc.contributor.authorROSS, Owen A
dc.contributor.authorHOULDEN, Henry
dc.contributor.authorSCHOLZ, Sonja W
dc.date.accessioned2024-06-19T12:45:27Z
dc.date.available2024-06-19T12:45:27Z
dc.date.issued2024-05-02
dc.identifier.issn1097-4199en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/200576
dc.description.abstractEnMultiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enGWAS
dc.subject.enMSA
dc.subject.enTWAS
dc.subject.enColocalization
dc.subject.enGene-Burden Analysis
dc.subject.enGenome-Wide Association Study
dc.subject.enMultiple System Atrophy
dc.subject.enPathway Analysis
dc.subject.enRepeat Expansion Mapping
dc.subject.enTranscriptome-Wide Association Study
dc.subject.enWhole Genome Sequencing
dc.title.enGenome sequence analyses identify novel risk loci for multiple system atrophy
dc.title.alternativeNeuronen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.neuron.2024.04.002en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed38701790en_US
bordeaux.journalNeuronen_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.funderIDNational Institutes of Healthen_US
hal.identifierhal-04617510
hal.version1
hal.date.transferred2024-06-19T12:45:37Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Neuron&rft.date=2024-05-02&rft.eissn=1097-4199&rft.issn=1097-4199&rft.au=CHIA,%20Ruth&RAY,%20Anindita&SHAH,%20Zalak&DING,%20Jinhui&RUFFO,%20Paola&rft.genre=article


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