Afficher la notice abrégée

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

dc.rights.licenseopenen_US
dc.contributor.authorHUSSON, T.
dc.contributor.authorDUBOC, J. B.
dc.contributor.authorQUENEZ, O.
dc.contributor.authorCHARBONNIER, C.
dc.contributor.authorROTHARMEL, M.
dc.contributor.authorCUENCA, M.
dc.contributor.authorJEGOUZO, X.
dc.contributor.authorRICHARD, A. C.
dc.contributor.authorFREBOURG, T.
dc.contributor.authorDELEUZE, J. F.
dc.contributor.authorBOLAND, A.
dc.contributor.authorGENIN, E.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTZOURIO, Christophe
dc.contributor.authorCAMPION, D.
dc.contributor.authorNICOLAS, G.
dc.contributor.authorGUILLIN, O.
dc.date.accessioned2020-11-17T10:00:15Z
dc.date.available2020-11-17T10:00:15Z
dc.date.issued2018-12-05
dc.identifier.issn2158-3188en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/14058
dc.description.abstractEnThis study aims at assessing the burden of rare (minor allele frequency < 1%) predicted damaging variants in the whole exome of 92 bipolar I disorder (BD) patients and 1051 controls of French ancestry. Patients exhibiting an extreme phenotype (earlier onset and family history of mood disorder) were preferentially included to increase the power to detect an association. A collapsing strategy was used to test the overall burden of rare variants in cases versus controls at the gene level. Only protein-truncating and predicted damaging missense variants were included in the analysis. Thirteen genes exhibited p values exceeding 10(-3) and could be considered as potential risk factors for BD. Furthermore, the validity of the association was supported when the Exome Aggregation Consortium database non-Finnish European population was used as controls for eight of them. Their gene products are involved in various cerebral processes, some of which were previously implicated in BD and belong to pathways implicated in the therapeutic effect of lithium, the main mood stabilizer. However, exome-wide threshold for association study was not reached, emphasizing that larger samples are needed.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enHEALTHY
dc.subject.enVINTAGE
dc.title.enIdentification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
dc.title.alternativeTransl Psychiatryen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41398-018-0291-7en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30518751en_US
bordeaux.journalTranslational psychiatryen_US
bordeaux.page268en_US
bordeaux.volume8en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamHEALTHY_BPHen_US
bordeaux.teamVINTAGEen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Translational%20psychiatry&amp;rft.date=2018-12-05&amp;rft.volume=8&amp;rft.issue=1&amp;rft.spage=268&amp;rft.epage=268&amp;rft.eissn=2158-3188&amp;rft.issn=2158-3188&amp;rft.au=HUSSON,%20T.&amp;DUBOC,%20J.%20B.&amp;QUENEZ,%20O.&amp;CHARBONNIER,%20C.&amp;ROTHARMEL,%20M.&amp;rft.genre=article


Fichier(s) constituant ce document

Thumbnail
Nom:
license_rdf
Taille:
914octets
Format:
application/rdf+xml
Voir/Ouvrir
Thumbnail
Nom:
BPH_TP_2018_Husson.pdf
Taille:
353.5Ko
Format:
PDF
Voir/Ouvrir

Ce document figure dans la(les) collection(s) suivante(s)

Afficher la notice abrégée