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

By Torbjørn Elvsåshagen, Shahram Bahrami, Dennis van der Meer, Ingrid Agartz, Dag Alnæs, Deanna 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 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, Jarek 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 Ziegler, Mathias Zink, Ole A. Andreassen, Lars T. Westlye, Tobias Kaufmann

Posted 21 Oct 2019
bioRxiv DOI: 10.1101/811711 (published DOI: 10.1038/s41467-020-17376-1)

Brainstem regions support critical bodily functions, yet their genetic architectures and involvement in brain disorders remain understudied. Here, we examined volumes of brainstem structures using magnetic resonance imaging in 43,353 individuals. In 27,034 genotyped healthy participants, we identified 16 genetic loci associated with whole brainstem volume and 10, 23, 3, and 9 loci associated with volumes of the midbrain, pons, superior cerebellar peduncle, and medulla oblongata, respectively. These loci were mapped to 305 genes, including genes linked to brainstem development and common brain disorders. We detected genetic overlap between the brainstem volumes and eight psychiatric and neurological disorders. Using imaging data from 16,319 additional individuals, we observed differential volume alterations in schizophrenia, bipolar disorder, multiple sclerosis, mild cognitive impairment, dementia, and Parkinson's disease. Together, our results provide new insights into the genetic underpinnings of brainstem structures and support their involvement in common brain disorders.

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