Journal article

Genetic architecture of subcortical brain structures in 38,851 individuals

Claudia L Satizabal, Hieab HH Adams, Derrek P Hibar, Charles C White, Maria J Knol, Jason L Stein, Markus Scholz, Muralidharan Sargurupremraj, Neda Jahanshad, Gennady Roshchupkin, Albert Smith, Joshua C Bis, Xueqiu Jian, Michelle Luciano, Edith Hofer, Alexander Teumer, Sven J van der Lee, Jingyun Yang, Lisa R Yanek, Tom Lee Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2019

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, ..

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Awarded by Medical Research Council


Awarded by NCATS NIH HHS


Awarded by NIA NIH HHS


Awarded by NINDS NIH HHS


Awarded by U.S. Department of Health & Human Services | NIH | National Center for Research Resources (NCRR)


Awarded by U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH)


Awarded by U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging)


Awarded by RCUK | MRC | Medical Research Foundation