TY - JOUR
T1 - The genetic architecture of human brainstem structures and their involvement in common brain disorders
AU - Elvsåshagen, Torbjørn
AU - Karolinska Schizophrenia Project (KaSP) consortium
AU - Bahrami, Shahram
AU - van der Meer, Dennis
AU - Agartz, Ingrid
AU - Alnæs, Dag
AU - Barch, Deanna M
AU - Baur-Streubel, Ramona
AU - Bertolino, Alessandro
AU - Beyer, Mona K
AU - Blasi, Giuseppe
AU - Borgwardt, Stefan
AU - Boye, Birgitte
AU - Buitelaar, Jan
AU - Bøen, Erlend
AU - Celius, Elisabeth Gulowsen
AU - Cervenka, Simon
AU - Conzelmann, Annette
AU - Coynel, David
AU - Di Carlo, Pasquale
AU - Djurovic, Srdjan
AU - Eisenacher, Sarah
AU - Espeseth, Thomas
AU - Fatouros-Bergman, Helena
AU - Flyckt, Lena
AU - Franke, Barbara
AU - Frei, Oleksandr
AU - Gelao, Barbara
AU - Harbo, Hanne Flinstad
AU - Hartman, Catharina A
AU - Håberg, Asta
AU - Heslenfeld, Dirk
AU - Hoekstra, Pieter J
AU - Høgestøl, Einar A
AU - Jonassen, Rune
AU - Jönsson, Erik G
AU - Kirsch, Peter
AU - Kłoszewska, Iwona
AU - Lagerberg, Trine Vik
AU - Landrø, Nils Inge
AU - Le Hellard, Stephanie
AU - Lesch, Klaus-Peter
AU - Maglanoc, Luigi A
AU - Malt, Ulrik F
AU - Mecocci, Patrizia
AU - Melle, Ingrid
AU - Meyer-Lindenberg, Andreas
AU - Moberget, Torgeir
AU - Nordvik, Jan Egil
AU - Nyberg, Lars
AU - Connell, Kevin S O'
PY - 2020/8/11
Y1 - 2020/8/11
N2 - 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.
AB - 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.
U2 - 10.1038/s41467-020-17376-1
DO - 10.1038/s41467-020-17376-1
M3 - Journal articles
C2 - 32782260
SN - 1751-8628
VL - 11
SP - 4016
JO - Nature Communications
JF - Nature Communications
IS - 1
ER -
