The genetic architecture of human brainstem structures and their involvement in common brain disorders
Dennis van der Meer,
Mona K. Beyer,
Elisabeth Gulowsen Celius,
Pasquale Di Carlo,
Hanne Flinstad Harbo,
Catharina A Hartman,
Einar A. Høgestøl,
Erik G. Jönsson,
Karolinska Schizophrenia Project (KaSP) consortium,
Trine Vik Lagerberg,
Nils Inge Landrø,
Stephanie Le Hellard,
Luigi A. Maglanoc,
Ulrik F. Malt,
Jan Egil Nordvik,
Kevin S. O’Connell,
Dominique de Quervain,
Daan van Rooij,
Alexey A. Shadrin,
Vidar M. Steen,
Ole A. Andreassen,
Lars T. Westlye,
Posted 21 Oct 2019
bioRxiv DOI: 10.1101/811711 (published DOI: 10.1038/s41467-020-17376-1)
Posted 21 Oct 2019
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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