학술논문

The genetic architecture of the human cerebral cortex
Document Type
article
Author
Grasby, Katrina LJahanshad, NedaPainter, Jodie NColodro-Conde, LucíaBralten, JanitaHibar, Derrek PLind, Penelope APizzagalli, FabrizioChing, Christopher RKMcMahon, Mary Agnes BShatokhina, NataliaZsembik, Leo CPThomopoulos, Sophia IZhu, Alyssa HStrike, Lachlan TAgartz, IngridAlhusaini, SaudAlmeida, Marcio AAAlnæs, DagAmlien, Inge KAndersson, MicaelArd, TylerArmstrong, Nicola JAshley-Koch, AllisonAtkins, Joshua RBernard, ManonBrouwer, Rachel MBuimer, Elizabeth ELBülow, RobinBürger, ChristianCannon, Dara MChakravarty, MallarChen, QiangCheung, Joshua WCouvy-Duchesne, BaptisteDale, Anders MDalvie, Shareefade Araujo, Tânia Kde Zubicaray, Greig Ide Zwarte, Sonja MCBraber, Anouk denDoan, Nhat TrungDohm, KatharinaEhrlich, StefanEngelbrecht, Hannah-RuthErk, SusanneFan, Chun ChiehFedko, Iryna OFoley, Sonya FFord, Judith MFukunaga, MasakiGarrett, Melanie EGe, TianGiddaluru, SudheerGoldman, Aaron LGreen, Melissa JGroenewold, Nynke AGrotegerd, DominikGurholt, Tiril PGutman, Boris AHansell, Narelle KHarris, Mathew AHarrison, Marc BHaswell, Courtney CHauser, MichaelHerms, StefanHeslenfeld, Dirk JHo, New FeiHoehn, DavidHoffmann, PerHolleran, LaurenaHoogman, MartineHottenga, Jouke-JanIkeda, MasashiJanowitz, DeborahJansen, Iris EJia, TianyeJockwitz, ChristianeKanai, RyotaKarama, SherifKasperaviciute, DaliaKaufmann, TobiasKelly, SineadKikuchi, MasatakaKlein, MariekeKnapp, MichaelKnodt, Annchen RKrämer, BerndLam, MaxLancaster, Thomas MLee, Phil HLett, Tristram ALewis, Lindsay BLopes-Cendes, IsciaLuciano, MichelleMacciardi, FabioMarquand, Andre FMathias, Samuel RMelzer, Tracy RMilaneschi, Yuri
Source
Science. 367(6484)
Subject
Biological Sciences
Genetics
Neurosciences
Mental Health
Brain Disorders
Stem Cell Research
2.1 Biological and endogenous factors
Aetiology
Neurological
Attention Deficit Disorder with Hyperactivity
Brain Mapping
Cerebral Cortex
Cognition
Genetic Loci
Genetic Variation
Genome-Wide Association Study
Humans
Magnetic Resonance Imaging
Organ Size
Parkinson Disease
Alzheimer’s Disease Neuroimaging Initiative
CHARGE Consortium
EPIGEN Consortium
IMAGEN Consortium
SYS Consortium
Parkinson’s Progression Markers Initiative
Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group
General Science & Technology
Language
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.