RT Journal Article SR Electronic T1 The genetic architecture of human brainstem structures and their involvement in common brain disorders JF bioRxiv FD Cold Spring Harbor Laboratory SP 811711 DO 10.1101/811711 A1 Torbjørn Elvsåshagen A1 Shahram Bahrami A1 Dennis van der Meer A1 Ingrid Agartz A1 Dag Alnæs A1 Deanna M. Barch A1 Ramona Baur-Streubel A1 Alessandro Bertolino A1 Mona K. Beyer A1 Giuseppe Blasi A1 Stefan Borgwardt A1 Birgitte Boye A1 Jan Buitelaar A1 Erlend Bøen A1 Elisabeth Gulowsen Celius A1 Simon Cervenka A1 Annette Conzelmann A1 David Coynel A1 Pasquale Di Carlo A1 Srdjan Djurovic A1 Sarah Eisenacher A1 Thomas Espeseth A1 Helena Fatouros-Bergman A1 Lena Flyckt A1 Barbara Franke A1 Oleksandr Frei A1 Barbara Gelao A1 Hanne Flinstad Harbo A1 Catharina A. Hartman A1 Asta Håberg A1 Dirk Heslenfeld A1 Pieter Hoekstra A1 Einar A. Høgestøl A1 Rune Jonassen A1 Erik G. Jönsson A1 Karolinska Schizophrenia Project (KaSP) consortium A1 Peter Kirsch A1 Iwona Kłoszewska A1 Trine Vik Lagerberg A1 Nils Inge Landrø A1 Stephanie Le Hellard A1 Klaus-Peter Lesch A1 Luigi A. Maglanoc A1 Ulrik F. Malt A1 Patrizia Mecocci A1 Ingrid Melle A1 Andreas Meyer-Lindenberg A1 Torgeir Moberget A1 Jan Egil Nordvik A1 Lars Nyberg A1 Kevin S. O’Connell A1 Jaap Oosterlaan A1 Marco Papalino A1 Andreas Papassotiropoulos A1 Paul Pauli A1 Giulio Pergola A1 Karin Persson A1 Dominique de Quervain A1 Andreas Reif A1 Jarek Rokicki A1 Daan van Rooij A1 Alexey A. Shadrin A1 André Schmidt A1 Emanuel Schwarz A1 Geir Selbæk A1 Hilkka Soininen A1 Piotr Sowa A1 Vidar M. Steen A1 Magda Tsolaki A1 Bruno Vellas A1 Lei Wang A1 Eric Westman A1 Georg Ziegler A1 Mathias Zink A1 Ole A. Andreassen A1 Lars T. Westlye A1 Tobias Kaufmann YR 2019 UL http://biorxiv.org/content/early/2019/10/21/811711.abstract AB 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.