The genetic architecture of human brainstem structures and their involvement in common brain disorders
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Published:2020-08-11
Issue:1
Volume:11
Page:
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ISSN:2041-1723
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Container-title:Nature Communications
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language:en
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Short-container-title:Nat Commun
Author:
Elvsåshagen Torbjørn, Bahrami Shahram, van der Meer DennisORCID, Agartz Ingrid, Alnæs DagORCID, Barch Deanna M.ORCID, Baur-Streubel Ramona, Bertolino Alessandro, Beyer Mona K., Blasi Giuseppe, Borgwardt Stefan, Boye Birgitte, Buitelaar JanORCID, Bøen ErlendORCID, Celius Elisabeth Gulowsen, Cervenka Simon, Conzelmann Annette, Coynel DavidORCID, Di Carlo PasqualeORCID, Djurovic SrdjanORCID, Eisenacher Sarah, Espeseth Thomas, Fatouros-Bergman Helena, Flyckt LenaORCID, Franke Barbara, Frei Oleksandr, Gelao BarbaraORCID, Harbo Hanne Flinstad, Hartman Catharina A., Håberg Asta, Heslenfeld Dirk, Hoekstra Pieter J., Høgestøl Einar A.ORCID, Jonassen Rune, Jönsson Erik G., Farde L., Flyckt L., Engberg G., Erhardt S S., Fatouros-Bergman H., Cervenka S., Schwieler L., Piehl F., Agartz I., Collste K., Victorsson P., Malmqvist A., Hedberg M., Orhan F., Sellgren C. M., Kirsch PeterORCID, Kłoszewska Iwona, Lagerberg Trine Vik, Landrø Nils Inge, Le Hellard StephanieORCID, Lesch Klaus-PeterORCID, Maglanoc Luigi A., Malt Ulrik F., Mecocci Patrizia, Melle IngridORCID, Meyer-Lindenberg Andreas, Moberget Torgeir, Nordvik Jan Egil, Nyberg Lars, Connell Kevin S. O’ORCID, Oosterlaan Jaap, Papalino Marco, Papassotiropoulos AndreasORCID, Pauli PaulORCID, Pergola GiulioORCID, Persson Karin, de Quervain Dominique, Reif AndreasORCID, Rokicki Jaroslav, van Rooij Daan, Shadrin Alexey A., Schmidt André, Schwarz Emanuel, Selbæk GeirORCID, Soininen HilkkaORCID, Sowa Piotr, Steen Vidar M., Tsolaki MagdaORCID, Vellas Bruno, Wang LeiORCID, Westman EricORCID, Ziegler Georg C., Zink Mathias, Andreassen Ole A., Westlye Lars T.ORCID, Kaufmann TobiasORCID,
Abstract
AbstractBrainstem regions support vital bodily functions, yet their genetic architectures and involvement 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.
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry
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