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Genetic architecture of subcortical brain structures in 38,851 individuals
UT Hlth San Antonio, Glenn Biggs Inst Alzheimers & Neurodegenerat Dis, San Antonio, TX 78229 USA;UT Hlth San Antonio, Dept Populat Hlth Sci, San Antonio, TX 78229 USA;Framingham Heart Dis Epidemiol Study, Framingham, MA 01702 USA;Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA.ORCID iD: 0000-0002-1115-4430
Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands;Erasmus MC, Dept Radiol & Nucl Med, Rotterdam, Netherlands;Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands.ORCID iD: 0000-0003-3687-2508
Univ Southern Calif, Keck Sch Med, USC Mark & Mary Stevens Neuroimaging & Informat I, Imaging Genet Ctr, Los Angeles, CA USA.
Broad Inst, Cell Circuits Program, Cambridge, MA USA;Columbia Univ, Dept Neurol, Med Ctr, Ctr Translat & Computat Neuroimmunol, New York, NY USA.
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2019 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 51, no 11, p. 1624-+Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2019. Vol. 51, no 11, p. 1624-+
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Medical Genetics
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URN: urn:nbn:se:uu:diva-397655DOI: 10.1038/s41588-019-0511-yISI: 000494714300011PubMedID: 31636452OAI: oai:DiVA.org:uu-397655DiVA, id: diva2:1374888
Funder
German Research Foundation (DFG), WI 3342/3-1Available from: 2019-12-03 Created: 2019-12-03 Last updated: 2019-12-03Bibliographically approved

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Axelsson, Tomas

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Satizabal, Claudia L.Adams, Hieab H. H.Knol, Maria J.Chauhan, GaneshAxelsson, TomasStein, Dan J.Walton, EstherStrike, Lachlan T.Westlye, Lars T.Jonsson, Erik G.Westman, EricWright, Margaret J.
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