Item type: | Article | ||||
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Journal or Publication Title: | Nature Genetics | ||||
Publisher: | Nature | ||||
Place of Publication: | NEW YORK | ||||
Volume: | 51 | ||||
Number of Issue or Book Chapter: | 11 | ||||
Page Range: | pp. 1624-1636 | ||||
Date: | 2019 | ||||
Institutions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin | ||||
Identification Number: |
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Keywords: | GENOME-WIDE ASSOCIATION; LD SCORE REGRESSION; BASAL GANGLIA; ALKALINE-PHOSPHATASE; ALZHEIMERS-DISEASE; PLASMA-PROTEIN; RISK LOCI; DROSOPHILA; METAANALYSIS; EXPRESSION; | ||||
Dewey Decimal Classification: | 600 Technology > 610 Medical sciences Medicine | ||||
Status: | Published | ||||
Refereed: | Yes, this version has been refereed | ||||
Created at the University of Regensburg: | Yes | ||||
Item ID: | 48092 |
Abstract
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 ...
Abstract
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.
Metadata last modified: 17 Feb 2022 10:09