Journal article

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

Claudia Satizabal, Hieab HH Adams, Derrek Hibar, Charles White, Jason Stein, Markus Scholz, Murali Sargurupremraj, Neda Jahanshad, Albert Smith, Joshua Bis, Xueqiu Jian, Michelle Luciano, Edith Hofer, Alexander Teumer, Sven van der Lee, Jingyun Yang, Lisa Yanek, Tom Lee, Shuo Li, Yanhui Hu Show all

Published : 2017


Abstract Subcortical brain structures are integral to motion, consciousness, emotions, and learning. We identified common genetic variation related to the volumes of nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen, and thalamus, using genome-wide association analyses in over 40,000 individuals from CHARGE, ENIGMA and the UK-Biobank. We show that variability in subcortical volumes is heritable, and identify 25 significantly associated loci (20 novel). Annotation of these loci utilizing gene expression, methylation, and neuropathological data identified 62 candidate genes implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, and susc..

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