Cristin-resultat-ID: 1761123
Sist endret: 8. mars 2020, 21:09
NVI-rapporteringsår: 2019
Resultat
Vitenskapelig artikkel
2019

Genetic architecture of subcortical brain structures in 38,851 individuals

Bidragsytere:
  • Claudia L. Satizabal
  • Hieab H.H. Adams
  • Derrek Hibar
  • Charles C. White
  • Maria J. Knol
  • Jason L. Stein
  • mfl.

Tidsskrift

Nature Genetics
ISSN 1061-4036
e-ISSN 1546-1718
NVI-nivå 2

Om resultatet

Vitenskapelig artikkel
Publiseringsår: 2019
Volum: 51
Sider: 1624 - 1636
Open Access

Importkilder

Scopus-ID: 2-s2.0-85074320860

Beskrivelse Beskrivelse

Tittel

Genetic architecture of subcortical brain structures in 38,851 individuals

Sammendrag

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Bidragsytere

Claudia L. Satizabal

  • Tilknyttet:
    Forfatter
    ved Boston University School of Medicine
  • Tilknyttet:
    Forfatter
    ved University of Texas Health Science Center-San Antonio

Hieab H.H. Adams

  • Tilknyttet:
    Forfatter
    ved Erasmus MC: Universitair Medisch Centrum Rotterdam

Derrek Hibar

  • Tilknyttet:
    Forfatter
    ved University of Southern California

Charles C. White

  • Tilknyttet:
    Forfatter
    ved Columbia University in the City of New York

Maria J. Knol

  • Tilknyttet:
    Forfatter
    ved Erasmus MC: Universitair Medisch Centrum Rotterdam
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