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The genetic architecture of human brainstem structures and their involvement in common brain disorders

dc.contributor.authorElvsåshagen, Torbjørn
dc.contributor.authorBahrami, Shahram
dc.contributor.authorvan der Meer, Dennis
dc.contributor.authorAgartz, Ingrid
dc.contributor.authorAlnæs, Dag
dc.contributor.authorBarch, Deanna M.
dc.contributor.authorBaur-Streubel, Ramona
dc.contributor.authorBertolino, Alessandro
dc.contributor.authorBeyer, Mona K.
dc.contributor.authorBlasi, Giuseppe
dc.contributor.authorBorgwardt, Stefan
dc.contributor.authorBoye, Birgitte
dc.contributor.authorBuitelaar, Jan
dc.contributor.authorBøen, Erlend
dc.contributor.authorCelius, Elisabeth Gulowsen
dc.contributor.authorCervenka, Simon
dc.contributor.authorConzelmann, Annette
dc.contributor.authorCoynel, David
dc.contributor.authordi Carlo, Pasquale
dc.contributor.authorDjurovic, Srdjan
dc.contributor.authorEisenacher, Sarah
dc.contributor.authorEspeseth, Thomas
dc.contributor.authorFatouros-Bergman, Helena
dc.contributor.authorFlyckt, Lena
dc.contributor.authorFranke, Barbara
dc.contributor.authorFrei, Oleksandr
dc.contributor.authorGelao, Barbara
dc.contributor.authorHarbo, Hanne Flinstad
dc.contributor.authorHartman, Catharina A.
dc.contributor.authorHåberg, Asta
dc.contributor.authorHeslenfeld, Dirk
dc.contributor.authorHoekstra, Pieter J.
dc.contributor.authorHøgestøl, Einar August
dc.contributor.authorJonassen, Rune
dc.contributor.authorJönsson, Erik G.
dc.contributor.authorKirsch, Peter
dc.contributor.authorKloszewska, Iwona
dc.contributor.authorLagerberg, Trine Vik
dc.contributor.authorLandrø, Nils Inge
dc.contributor.authorLe Hellard, Stephanie
dc.contributor.authorLesch, Klaus-Peter
dc.contributor.authorMaglanoc, Luigi Angelo
dc.contributor.authorMalt, Ulrik Fredrik
dc.contributor.authorMecocci, Patrizia
dc.contributor.authorMelle, Ingrid
dc.contributor.authorMeyer-Lindenberg, Andreas
dc.contributor.authorMoberget, Torgeir
dc.contributor.authorNordvik, Jan Egil
dc.contributor.authorNyberg, Lars
dc.contributor.authorO’ Connell, Kevin S.
dc.contributor.authorOosterlaan, Jaap
dc.contributor.authorPapalino, Marco
dc.contributor.authorPapassotiropoulos, Andreas
dc.contributor.authorPauli, Paul
dc.contributor.authorPergola, Giulio
dc.contributor.authorPersson, Karin
dc.contributor.authorde Quervain, Dominique
dc.contributor.authorReif, Andreas
dc.contributor.authorRokicki, Jaroslav
dc.contributor.authorVan Rooij, Daan
dc.contributor.authorShadrin, Alexey A.
dc.contributor.authorSchmidt, André
dc.contributor.authorSchwarz, Emanuel
dc.contributor.authorSelbæk, Geir
dc.contributor.authorSoininen, Hilkka
dc.contributor.authorSowa, Piotr
dc.contributor.authorSteen, Vidar M.
dc.contributor.authorTsolaki, Magda
dc.contributor.authorVellas, Bruno
dc.contributor.authorWang, Lei
dc.contributor.authorWestman, Eric
dc.contributor.authorZiegler, Georg C.
dc.contributor.authorZink, Mathias
dc.contributor.authorAndreassen, Ole Andreas
dc.contributor.authorWestlye, Lars Tjelta
dc.contributor.authorKaufmann, Tobias
dc.date.accessioned2020-12-29T14:01:31Z
dc.date.accessioned2021-02-19T11:35:53Z
dc.date.available2020-12-29T14:01:31Z
dc.date.available2021-02-19T11:35:53Z
dc.date.issued2020-08-11
dc.identifier.citationElvsåshagen T, Bahrami S, van der Meer D, Agartz I, Alnæs D, Barch DM, Baur-Streubel R, Bertolino A, Beyer MK, Blasi G, Borgwardt S, Boye B, Buitelaar J, Bøen E, Celius EGC, Cervenka S, Conzelmann A, Coynel D, di Carlo P, Djurovic S, Eisenacher S, Espeseth T, Fatouros-Bergman H, Flyckt L, Franke B, Frei O, Gelao, Harbo HFH, Hartman CA, Håberg A, Heslenfeld D, Hoekstra PJ, Høgestøl EA, Jonassen R, Jönsson EG, Kirsch P, Kloszewska I, Lagerberg TV, Landrø NI, Le Hellard S, Lesch K, Maglanoc LA, Malt UF, Mecocci P, Melle I, Meyer-Lindenberg A, Moberget T, Nordvik JE, Nyberg L, O’ Connell, Oosterlaan J, Papalino M, Papassotiropoulos A, Pauli P, Pergola G, Persson K, de Quervain D, Reif A, Rokicki J, Van Rooij D, Shadrin AA, Schmidt A, Schwarz E, Selbæk GS, Soininen H, Sowa PW, Steen VM, Tsolaki M, Vellas B, Wang L, Westman E, Ziegler GC, Zink M, Andreassen OA, Westlye LT, Kaufmann T. The genetic architecture of human brainstem structures and their involvement in common brain disorders. Nature Communications. 2020en
dc.identifier.issn2041-1723
dc.identifier.urihttps://hdl.handle.net/10642/9631
dc.description.abstractBrainstem regions support vital bodily functions, yet their genetic architectures and invol- vement in common brain disorders remain understudied. Here, using imaging-genetics data from a discovery sample of 27,034 individuals, we identify 45 brainstem-associated genetic loci, including the first linked to midbrain, pons, and medulla oblongata volumes, and map them to 305 genes. In a replication sample of 7432 participants most of the loci show the same effect direction and are significant at a nominal threshold. We detect genetic overlap between brainstem volumes and eight psychiatric and neurological disorders. In additional clinical data from 5062 individuals with common brain disorders and 11,257 healthy controls, we observe differential volume alterations in schizophrenia, bipolar disorder, multiple sclerosis, mild cognitive impairment, dementia, and Parkinson’s disease, supporting the relevance of brainstem regions and their genetic architectures in common brain disorders.en
dc.description.sponsorshipThe author list between I.A. and M.Z. is in alphabetic order. The authors were funded by` the South-Eastern Norway Regional Health Authority 2015-078 (T.E.), 2013-123 (O.A.A.), 2014-097 (L.T.W.), 2015-073 (L.T.W.) and 2016-083 (L.T.W.), by the Research Council of Norway (276082 LifespanHealth (T.K.), 213837 (O.A.A), 223273 NORMENT (O.A.A.), 204966 (L.T.W.), 229129 (O.A.A.), 249795 (L.T.W.), 273345 (L.T.W.) and 283798 SYNSCHIZ (O.A.A.)), Stiftelsen Kristian Gerhard Jebsen, the European Research Council (ERCStG 802998 BRAINMINT (L.T.W.)), NVIDIA Corporation GPU Grant (T.K.), the Ebbe Frøland foundation, and a research grant from Mrs. Throne-Holst. The investigators within the ADNI contributed to the design and implementation of ADNI and/or provided data but did not participate in analysis or writing of this report. This publication is solely the responsibility of the authors and does not necessarily represent the views of the National Institutes of Health investigators. Complete listings of participating sites and study investigators can be found at [http://adni.loni.usc.edu/wp-content/uploads/how_to_apply/ADNI_Acknowledgement_List.pdf]. The AddNeuroMed consortium was led by Simon Lovestone, Bruno Vellas, Patrizia Mecocci, Magda Tsolaki, Iwona Kłoszewska, and Hilkka Soininen.en
dc.language.isoenen
dc.publisherNature Researchen
dc.relation.ispartofseriesNature Communications;11:4016
dc.rightsCreative Commons Attribution 4.0 International (CC BY 4.0) Licenseen
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHuman brainstem structuresen
dc.subjectCommon brain disordersen
dc.subjectGenetic architecturesen
dc.subjectBrains
dc.subjectNervous system diseases
dc.subjectNervous system genetics
dc.subjectGenome-wide association studies
dc.titleThe genetic architecture of human brainstem structures and their involvement in common brain disordersen
dc.typeJournal articleen
dc.typePeer revieweden
dc.date.updated2020-12-29T14:01:31Z
dc.description.versionpublishedVersionen
dc.identifier.doihttps://doi.org/10.1038/s41467-020-17376-1
dc.identifier.cristin1863855
dc.source.journalNature Communications


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