The genetic architecture of the human cerebral cortex.
Abstract
The cerebral cortex underlies our complex cognitive capabilities, yet little is known
about the specific genetic loci that influence human cortical structure. To identify
genetic variants that affect cortical structure, we conducted a genome-wide association
meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We
analyzed the surface area and average thickness of the whole cortex and 34 regions
with known functional specializations. We identified 199 significant loci and found
significant enrichment for loci influencing total surface area within regulatory elements
that are active during prenatal cortical development, supporting the radial unit hypothesis.
Loci that affect regional surface area cluster near genes in Wnt signaling pathways,
which influence progenitor expansion and areal identity. Variation in cortical structure
is genetically correlated with cognitive function, Parkinson's disease, insomnia,
depression, neuroticism, and attention deficit hyperactivity disorder.
Type
Journal articleSubject
Alzheimer’s Disease Neuroimaging InitiativeCHARGE Consortium
EPIGEN Consortium
IMAGEN Consortium
SYS Consortium
Parkinson’s Progression Markers Initiative
Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group
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https://hdl.handle.net/10161/20340Published Version (Please cite this version)
10.1126/science.aay6690Publication Info
(2020). The genetic architecture of the human cerebral cortex. Science (New York, N.Y.), 367(6484). pp. eaay6690-eaay6690. 10.1126/science.aay6690. Retrieved from https://hdl.handle.net/10161/20340.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Allison Elizabeth Ashley-Koch
Professor in Medicine
One of my major research foci is in the genetic basis of psychiatric and neurological
disorders. I am currently involved in studies to dissect the genetic etiology of
attention deficit hyperactivity disorder (ADHD), autism, chiari type I malformations,
essential tremor, and neural tube defects. Additional research foci include genetic
modifiers of sickle cell disease, and genetic contributions to birth outcomes, particularly
among African American women.
Jean Crowell Beckham
Professor in Psychiatry and Behavioral Sciences
Interest in assessment and treatment of trauma, particularly as occurs for both women
and men during military service; focus in treatment outcome of differential and collective
contribution for psychopharmacological and behavioral interventions in PTSD populations;
long term physical health effects of chronic posttraumatic stress disorder.
Aysenil Belger
Adjunct Assistant Professor in Radiology
Dr. Belger’s research focuses on translational and interdisciplinary studies of the
cortical circuits underlying attention, executive function and emotion processing
in the human brain, as well as their breakdown in neuropsychiatric disorders, such
as autism, schizophrenia, mood disorders, and PTSD. Dr. Belger combines functional
magnetic resonance imaging (fMRI), electrophysiological scalp recording (EEG), functional
near infrared spectroscopy (fNIRS), experimental psychology and neuro
Michael Arthur Hauser
Professor in Medicine
Dr. Hauser has a strong interest in ocular genetics. Genomic studies at the Center
for Human Genetics have identified multiple linkage peaks and susceptibility genes
in primary open angle glaucoma (POAG) and age related macular degeneration (AMD).
Dr. Hauser has recently accepted a 20% appointment at the Singapore Eye Research INstitute
and the Duke/National University of Singapore. In collaboration with multiple collaborators
in Singapore, and Dr. Rand Allingham at the Duke Eye Cente
Nathan Andrew Kimbrel
Associate Professor in Psychiatry and Behavioral Sciences
My primary areas of interest include the etiology, assessment, and treatment of PTSD,
depression, suicide, and non-suicidal self-injury. I primarily work with veterans,
firefighters, and emergency medical personnel due to their high levels of occupational
exposure to traumatic stress. I also have long-standing interests in genetics, epigenetics,
GxE research, personality, smoking, comorbidity, and statistical modeling procedures,
such as CFA, SEM, and mixture modeling.
Rajendra A. Morey
Professor of Psychiatry and Behavioral Sciences
Research in my lab is focused on brain changes associated with posttraumatic stress
disorder (PTSD), traumatic brain injury (TBI), and other neuropsychiatric disorders.
We apply several advanced methods for understanding brain function including functional
MRI, structural MRI, diffusion tensor imaging, and genetic effects.
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