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pmid: 32193296
pmc: PMC7295264
handle: 10668/27761 , 1871.1/24e85212-901f-4109-a8bc-9246e70bb73d , 11370/b56e82d8-e68c-43de-888f-59b0b085874b , 10852/83293 , 11250/2760637 , 1887/3184500 , 2066/218611 , 21.11116/0000-0005-E90D-7 , 21.11116/0000-0005-F5A0-1 , 21.11116/0000-0005-E8FE-8 , 21.11116/0000-000D-7752-1 , 20.500.11820/2ad2fee5-a1cb-432b-81a0-283158c2db79 , 2318/1766232 , 10161/20340 , 1959.4/unsworks_65095 , 2440/126617 , 1805/29520 , 11343/254050 , 1959.13/1445808 , 1983/0296ba5a-b044-4828-91c0-e6503316c0d2
pmid: 32193296
pmc: PMC7295264
handle: 10668/27761 , 1871.1/24e85212-901f-4109-a8bc-9246e70bb73d , 11370/b56e82d8-e68c-43de-888f-59b0b085874b , 10852/83293 , 11250/2760637 , 1887/3184500 , 2066/218611 , 21.11116/0000-0005-E90D-7 , 21.11116/0000-0005-F5A0-1 , 21.11116/0000-0005-E8FE-8 , 21.11116/0000-000D-7752-1 , 20.500.11820/2ad2fee5-a1cb-432b-81a0-283158c2db79 , 2318/1766232 , 10161/20340 , 1959.4/unsworks_65095 , 2440/126617 , 1805/29520 , 11343/254050 , 1959.13/1445808 , 1983/0296ba5a-b044-4828-91c0-e6503316c0d2
The cerebral cortex underlies our complex cognitive capabilities, yet we know little about the specific genetic loci influencing human cortical structure. To identify genetic variants, including structural variants, impacting cortical structure, we conducted a genome-wide association meta-analysis of brain MRI data from 51,662 individuals. We analysed the surface area and average thickness of the whole cortex and 34 regions with known functional specialisations. We identified 255 nominally significant loci (P≤ 5 × 10−8); 199 survived multiple testing correction (P≤ 8.3 × 10−10; 187 surface area; 12 thickness). We found significant enrichment for loci influencing total surface area within regulatory elements active during prenatal cortical development, supporting the radial unit hypothesis. Loci impacting regional surface area cluster near genes in Wnt signalling pathways, known to influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson’s disease, insomnia, depression and ADHD.One Sentence SummaryCommon genetic variation is associated with inter-individual variation in the structure of the human cortex, both globally and within specific regions, and is shared with genetic risk factors for some neuropsychiatric disorders.
Netherlands Twin Register (NTR), LOCI, surface-area, /dk/atira/pure/subjectarea/asjc/1000; name=General, Cognition, common variants, 2.1 Biological and endogenous factors, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, anzsrc-for: 31 Biological Sciences, observer-independent characterization, cortical sulci, Cerebral Cortex, Brain Mapping, Multidisciplinary, COMMON VARIANTS, Parkinson Disease, Organ Size, Biological Sciences, Psychiatry - Radboud University Medical Center, SYS Consortium, Magnetic Resonance Imaging, EMC NIHES-03-30-02, [SDV] Life Sciences [q-bio], Mental Health, Neurological, loci, cerebral cortex, brain mapping, FUNCTIONAL ANNOTATION, metaanalysis, Neuroinformatics, EXPRESSION, info:eu-repo/classification/ddc/320, central sulcus, General Science & Technology, brain, 1.1 Normal biological development and functioning, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group, EMC OR-01, 610, SURFACE-AREA, 3105 Genetics, 616, expression, Genetics, Humans, Parkinson’s Progression Markers Initiative, human, Cognitive Neuroscience - Radboud University Medical Center, GENOME-WIDE ASSOCIATION, IMAGEN Consortium, METAANALYSIS, CORTICAL SULCI, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, EPIGEN Consortium, Human Genome, Neurosciences, Genetic Variation, Alzheimer’s Disease Neuroimaging Initiative, Attention Deficit Disorder with Hyperactivity; Brain Mapping; Cerebral Cortex; Cognition; Genetic Loci; Genome-Wide Association Study; Humans; Magnetic Resonance Imaging; Organ Size; Parkinson Disease; Genetic Variation, functional annotation, Stem Cell Research, Brain Disorders, anzsrc-for: 3105 Genetics, OBSERVER-INDEPENDENT CHARACTERIZATION, Attention Deficit Disorder with Hyperactivity, Genetic Loci, 1000 General, genetic variation, CHARGE Consortium, genome-wide association, attention deficit disorder withy hyperactivity, Human Genetics - Radboud University Medical Center, 31 Biological Sciences, CENTRAL SULCUS, Genome-Wide Association Study, ddc: ddc:320
Netherlands Twin Register (NTR), LOCI, surface-area, /dk/atira/pure/subjectarea/asjc/1000; name=General, Cognition, common variants, 2.1 Biological and endogenous factors, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being, anzsrc-for: 31 Biological Sciences, observer-independent characterization, cortical sulci, Cerebral Cortex, Brain Mapping, Multidisciplinary, COMMON VARIANTS, Parkinson Disease, Organ Size, Biological Sciences, Psychiatry - Radboud University Medical Center, SYS Consortium, Magnetic Resonance Imaging, EMC NIHES-03-30-02, [SDV] Life Sciences [q-bio], Mental Health, Neurological, loci, cerebral cortex, brain mapping, FUNCTIONAL ANNOTATION, metaanalysis, Neuroinformatics, EXPRESSION, info:eu-repo/classification/ddc/320, central sulcus, General Science & Technology, brain, 1.1 Normal biological development and functioning, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group, EMC OR-01, 610, SURFACE-AREA, 3105 Genetics, 616, expression, Genetics, Humans, Parkinson’s Progression Markers Initiative, human, Cognitive Neuroscience - Radboud University Medical Center, GENOME-WIDE ASSOCIATION, IMAGEN Consortium, METAANALYSIS, CORTICAL SULCI, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, EPIGEN Consortium, Human Genome, Neurosciences, Genetic Variation, Alzheimer’s Disease Neuroimaging Initiative, Attention Deficit Disorder with Hyperactivity; Brain Mapping; Cerebral Cortex; Cognition; Genetic Loci; Genome-Wide Association Study; Humans; Magnetic Resonance Imaging; Organ Size; Parkinson Disease; Genetic Variation, functional annotation, Stem Cell Research, Brain Disorders, anzsrc-for: 3105 Genetics, OBSERVER-INDEPENDENT CHARACTERIZATION, Attention Deficit Disorder with Hyperactivity, Genetic Loci, 1000 General, genetic variation, CHARGE Consortium, genome-wide association, attention deficit disorder withy hyperactivity, Human Genetics - Radboud University Medical Center, 31 Biological Sciences, CENTRAL SULCUS, Genome-Wide Association Study, ddc: ddc:320
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