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.

Department

Description

Provenance

Citation

Published Version (Please cite this version)

10.1126/science.aay6690

Publication Info

Grasby, Katrina L, Neda Jahanshad, Jodie N Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P Hibar, Penelope A Lind, Fabrizio Pizzagalli, et al. (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.

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Scholars@Duke

Ashley-Koch

Allison Elizabeth Ashley-Koch

Professor in Medicine

My work focuses on the dissection of human traits using multi-omic technologies (genetics, epigenetics, metabolomics and proteomics).  I am investigating the basis of several neurological and psychiatric conditions such as neural tube defects and post-traumatic stress disorder. I also study modifiers of sickle cell disease.

Hauser

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 Center, Dr. Hauser is currently conducting a genome wide association study for glaucoma in individuals of African ancestry. These investigations include large datasets collected in Ghana, Nigeria, and South Africa.  
 
Dr. Hauser is also involved in collaborative investigations into the genetics of post-tramatic stress disorder in US veterans from Iraq and Afghanistan.   Major collaborators include Dr. Allison Ashley Koch, Dr. Jean Beckham, Dr. Christine Marx and the MIRECC Collaborative group at the Durham Veteran's Administration.  We have published a genome wide association study, as well as numerous investigations into candidate genes.  Epigenomic DNA methylation analysis and gene expression analysis of 3500 individuals is currently ongoing. 

Belger

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 neuropsychological assessment techniques to explore the behavioral and neurophysiological underpinnings of sensory and cognitive impairments across disorders. Her integrative research has most recently examined electrophysiological and functional abnormalities in young autistic children, as well as children, adolescents and adults at clinical and familial risk for psychosis. Dr. Belger is part of a large interdisciplinary team of investigators conducting multi-institutional studies exploring the impact of early childhood abuse and neglect on adult brain function, structure and substance abuse outcomes.

Recent studies from Dr. Belger’s laboratory have demonstrated that parents of children with autism share phenotypic and neurobiological markers associated with aberrant social information processing. Additionally, her lab has demonstrated that abnormal neural oscillatory activity in multiple frequency bandwidths are associated with specific higher order cognitive and affective processing impairments in patients with schizophrenia and their unaffected first-degree relatives. She currently examines stress regulation and brain function in adolescence, and risk for psychosis. She eagerly mentors multiple undergraduate, graduate and medical students, postdoctoral trainees and junior faculty, and teaches Cognitive Clinical Neuroscience at UNC.

Kimbrel

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.

Morey

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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