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Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

dc.rights.licenseopenen_US
dc.contributor.authorCHEN, J. A.
dc.contributor.authorCHEN, Z.
dc.contributor.authorWON, H.
dc.contributor.authorHUANG, A. Y.
dc.contributor.authorLOWE, J. K.
dc.contributor.authorWOJTA, K.
dc.contributor.authorYOKOYAMA, J. S.
dc.contributor.authorBENSIMON, G.
dc.contributor.authorLEIGH, P. N.
dc.contributor.authorPAYAN, C.
dc.contributor.authorSHATUNOV, A.
dc.contributor.authorJONES, A. R.
dc.contributor.authorLEWIS, C. M.
dc.contributor.authorDELOUKAS, P.
dc.contributor.authorAMOUYEL, Philippe
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTZOURIO, Christophe
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDARTIGUES, Jean-Francois
ORCID: 0000-0001-9482-5529
IDREF: 058586105
dc.contributor.authorLUDOLPH, A.
dc.contributor.authorBOXER, A. L.
dc.contributor.authorBRONSTEIN, J. M.
dc.contributor.authorAL-CHALABI, A.
dc.contributor.authorGESCHWIND, D. H.
dc.contributor.authorCOPPOLA, G.
dc.date.accessioned2020-10-27T15:03:12Z
dc.date.available2020-10-27T15:03:12Z
dc.date.issued2018-08-08
dc.identifier.issn1750-1326 (Electronic) 1750-1326 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/11524
dc.description.abstractEnBACKGROUND: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. METHODS: We conducted a joint analysis of 5,523,934 imputed SNPs in two newly-genotyped progressive supranuclear palsy cohorts, primarily derived from two clinical trials (Allon davunetide and NNIPPS riluzole trials in PSP) and a previously published genome-wide association study (GWAS), in total comprising 1646 cases and 10,662 controls of European ancestry. RESULTS: We identified 5 associated loci at a genome-wide significance threshold P < 5 x 10(- 8), including replication of 3 loci from previous studies and 2 novel loci at 6p21.1 and 12p12.1 (near RUNX2 and SLCO1A2, respectively). At the 17q21.31 locus, stepwise regression analysis confirmed the presence of multiple independent loci (localized near MAPT and KANSL1). An additional 4 loci were highly suggestive of association (P < 1 x 10(- 6)). We analyzed the genetic correlation with multiple neurodegenerative diseases, and found that PSP had shared polygenic heritability with Parkinson's disease and amyotrophic lateral sclerosis. CONCLUSIONS: In total, we identified 6 additional significant or suggestive SNP associations with PSP, and discovered genetic overlap with other neurodegenerative diseases. These findings clarify the pathogenesis and genetic architecture of PSP.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enSEPIA
dc.subject.enVINTAGE
dc.title.enJoint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases
dc.title.alternativeMol Neurodegeneren_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1186/s13024-018-0270-8en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30089514en_US
bordeaux.journalMolecular Neurodegenerationen_US
bordeaux.page41en_US
bordeaux.volume13en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamHEALTHY_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03164802
hal.version1
hal.date.transferred2021-03-10T10:03:56Z
hal.exporttrue
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