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

Brainstem 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 link...

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Main Authors: Elvsåshagen, Torbjørn (Author) , Eisenacher, Sarah (Author) , Kirsch, Peter (Author) , Meyer-Lindenberg, Andreas (Author) , Schwarz, Emanuel (Author) , Zink, Mathias (Author)
Format: Article (Journal)
Language:English
Published: [2020]
In: Nature Communications
Year: 2020, Volume: 11
ISSN:2041-1723
DOI:10.1038/s41467-020-17376-1
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/s41467-020-17376-1
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/s41467-020-17376-1
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Author Notes:Torbjørn Elvsåshagen, Shahram Bahrami, Dennis van der Meer, Ingrid Agartz, Dag Alnæs, Deanna M. Barch, Ramona Baur-Streubel, Alessandro Bertolino, Mona K. Beyer, Giuseppe Blasi, Stefan Borgwardt, Birgitte Boye, Jan Buitelaar, Erlend Bøen, Elisabeth Gulowsen Celius, Simon Cervenka, Annette Conzelmann, David Coynel, Pasquale Di Carlo, Srdjan Djurovic, Sarah Eisenacher, Thomas Espeseth, Helena Fatouros-Bergman, Lena Flyckt, Barbara Franke, Oleksandr Frei, Barbara Gelao, Hanne Flinstad Harbo, Catharina A. Hartman, Asta Håberg, Dirk Heslenfeld, Pieter J. Hoekstra, Einar A. Høgestøl, Rune Jonassen, Erik G. Jönsson, Karolinska Schizophrenia Project (KaSP) Consortium, Peter Kirsch, Iwona Kłoszewska, Trine Vik Lagerberg, Nils Inge Landrø, Stephanie Le Hellard, Klaus-Peter Lesch, Luigi A. Maglanoc, Ulrik F. Malt, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Torgeir Moberget, Jan Egil Nordvik, Lars Nyberg, Kevin S. O’ Connell, Jaap Oosterlaan, Marco Papalino, Andreas Papassotiropoulos, Paul Pauli, Giulio Pergola, Karin Persson, Dominique de Quervain, Andreas Reif, Jaroslav Rokicki, Daan van Rooij, Alexey A. Shadrin, André Schmidt, Emanuel Schwarz, Geir Selbæk, Hilkka Soininen, Piotr Sowa, Vidar M. Steen, Magda Tsolaki, Bruno Vellas, Lei Wang, Eric Westman, Georg C. Ziegler, Mathias Zink, Ole A. Andreassen, Lars T. Westlye, & Tobias Kaufmann
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Summary:Brainstem 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.
Item Description:Gesehen am 29.09.2020
Physical Description:Online Resource
ISSN:2041-1723
DOI:10.1038/s41467-020-17376-1

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