Science, Vol.367, No.6484, 1340-+, 2020
The genetic architecture of the human cerebral cortex
Grasby KL ,
Jahanshad N ,
Painter JN ,
Colodro-Conde L ,
Bralten J ,
Hibar DP ,
Lind PA ,
Pizzagalli F ,
Ching CRK ,
McMahon MAB ,
Shatokhina N ,
Zsembik LCP ,
Thomopoulos SI ,
Zhu AH ,
Strike LT ,
Agartz I ,
Alhusaini S ,
Almeida MAA ,
Alnaes D ,
Amlien IK ,
Andersson M ,
Ard T ,
Armstrong NJ ,
Ashley-Koch A ,
Atkins JR ,
Bernard M ,
Brouwer RM ,
Buimer EEL ,
Bulow R ,
Burger C ,
Cannon DM ,
Chakravarty M ,
Chen Q ,
Cheung JW ,
Couvy-Duchesne B ,
Dale AM ,
Dalvie S ,
de Araujo TK ,
de Zubicaray GI ,
de Zwarte SMC ,
den Braber A ,
Doan NT ,
Dohm K ,
Ehrlich S ,
Engelbrecht HR ,
Erk S ,
Fan CC ,
Fedko IO ,
Foley SF ,
Ford JM ,
Fukunaga M ,
Garrett ME ,
Ge T ,
Giddaluru S ,
Goldman AL ,
Green MJ ,
Groenewold NA ,
Grotegerd D ,
Gurholt TP ,
Gutman BA ,
Hansell NK ,
Harris MA ,
Harrison MB ,
Haswell CC ,
Hauser M ,
Herms S ,
Heslenfeld DJ ,
Ho NF ,
Hoehn D ,
Hoffmann P ,
Holleran L ,
Hoogman M ,
Hottenga JJ ,
Ikeda M ,
Janowitz D ,
Jansen IE ,
Jia T ,
Jockwitz C ,
Kanai R ,
Karama S ,
Kasperaviciute D ,
Kaufmann T ,
Kelly S ,
Kikuchi M ,
Klein M ,
Knapp M ,
Knodt AR ,
Kramer B ,
Lam M ,
Lancaster TM ,
Lee PH ,
Lett TA ,
Lewis LB ,
Lopes-Cendes I ,
Luciano M ,
Macciardi F ,
Marquand AF ,
Mathias SR ,
Melzer TR ,
Milaneschi Y ,
Mirza-Schreiber N ,
Moreira JCV ,
Muhleisen TW ,
Muller-Myhsok B ,
Najt P ,
Nakahara S ,
Nho K ,
Loohuis LMO ,
Orfanos DP ,
Pearson JF ,
Pitcher TL ,
Putz B ,
Quide Y ,
Ragothaman A ,
Rashid FM ,
Reay WR ,
Redlich R ,
Reinbold CS ,
Repple J ,
Richard G ,
Riedel BC ,
Risacher SL ,
Rocha CS ,
Mota NR ,
Salminen L ,
Saremi A ,
Saykin AJ ,
Schlag F ,
Schmaal L ,
Schofield PR ,
Secolin R ,
Shapland CY ,
Shen L ,
Shin J ,
Shumskaya E ,
Sonderby IE ,
Sprooten E ,
Tansey KE ,
Teumer A ,
Thalamuthu A ,
Tordesillas-Gutierrez D ,
Turner JA ,
Uhlmann A ,
Vallerga CL ,
van der Meer D ,
van Donkelaar MMJ ,
van Eijk L ,
van Erp TGM ,
van Haren NEM ,
van Rooij D ,
van Tol MJ ,
Veldink JH ,
Verhoef E ,
Walton E ,
Wang M ,
Wang Y ,
Wardlaw JM ,
Wen W ,
Westlye LT ,
Whelan CD ,
Witt SH ,
Wittfeld K ,
Wolf C ,
Wolfers T ,
Wu JQ ,
Yasuda CL ,
Zaremba D ,
Zhang Z ,
Zwiers MP ,
Artiges E ,
Assareh AA ,
Ayesa-Arriola R ,
Belger A ,
Brandt CL ,
Brown GG ,
Cichon S ,
Curran JE ,
Davies GE ,
Degenhardt F ,
Dennis MF ,
Dietsche B ,
Djurovic S ,
Doherty CP ,
Espiritu R ,
Garijo D ,
Gil Y ,
Gowland PA ,
Green RC ,
Hausler AN ,
Heindel W ,
Ho BC ,
Hoffmann WU ,
Holsboer F ,
Homuth G ,
Hosten N ,
Jack CR ,
Jang M ,
Jansen A ,
Kimbrel NA ,
Kolskar K ,
Koops S ,
Krug A ,
Lim KO ,
Luykx JJ ,
Mathalon DH ,
Mather KA ,
Mattay VS ,
Matthews S ,
Van Son JM ,
McEwen SC ,
Melle I ,
Morris DW ,
Mueller BA ,
Nauck M ,
Nordvik JE ,
Nothen MM ,
O'Leary DS ,
Opel N ,
Martinot MLP ,
Pike GB ,
Preda A ,
Quinlan EB ,
Rasser PE ,
Ratnakar V ,
Reppermund S ,
Steen VM ,
Tooney PA ,
Torres FR ,
Veltman DJ ,
Voyvodic JT ,
Whelan R ,
White T ,
Yamamori H ,
Adams HHH ,
Bis JC ,
Debette S ,
Decarli C ,
Fornage M ,
Gudnason V ,
Hofer E ,
Ikram MA ,
Launer L ,
Longstreth WT ,
Lopez OL ,
Mazoyer B ,
Mosley TH ,
Roshchupkin GV ,
Satizabal CL ,
Schmidt R ,
Seshadri S ,
Yang Q ,
Alvim MKM ,
Ames D ,
Anderson TJ ,
Andreassen OA ,
Arias-Vasquez A ,
Bastin ME ,
Baune BT ,
Beckham JC ,
Blangero J ,
Boomsma DI ,
Brodaty H ,
Brunner HG ,
Buckner RL ,
Buitelaar JK ,
Bustillo JR ,
Cahn W ,
Cairns MJ ,
Calhoun V ,
Carr VJ ,
Caseras X ,
Caspers S ,
Cavalleri GL ,
Cendes F ,
Corvin A ,
Crespo-Facorro B ,
Dalrymple-Alford JC ,
Dannlowski U ,
de Geus EJC ,
Deary IJ ,
Delanty N ,
Depondt C ,
Desrivieres S ,
Donohoe G ,
Espeseth T ,
Fernandez G ,
Fisher SE ,
Flor H ,
Forstner AJ ,
Francks C ,
Franke B ,
Glahn DC ,
Gollub RL ,
Grabe HJ ,
Gruber O ,
Haberg AK ,
Hariri AR ,
Hartman CA ,
Hashimoto R ,
Heinz A ,
Henskens FA ,
Hillegers MHJ ,
Hopkins WD ,
Pol HEH ,
Jernigan TL ,
Jonsson EG ,
Kahn RS ,
Kennedy MA ,
Kircher TTJ ,
Kochunov P ,
Kwok JBJ ,
Le Hellard S ,
Loughland CM ,
Martin NG ,
Martinot JL ,
McDonald C ,
McMahon KL ,
Meyer-Lindenberg A ,
Michie PT ,
Morey RA ,
Mowry B ,
Nyberg L ,
Oosterlaan J ,
Ophoff RA ,
Pantelis C ,
Paus T ,
Pausova Z ,
Penninx BWJH ,
Polderman TJC ,
Posthuma D ,
Rietschel M ,
Roffman JL ,
Rowland LM ,
Sachdev PS ,
Samann PG ,
Schall U ,
Schumann G ,
Scott RJ ,
Sim K ,
Sisodiya SM ,
Smoller JW ,
Sommer IE ,
St Pourcain B ,
Stein DJ ,
Toga AW ,
Trollor JN ,
Van der Wee NJA ,
van't Ent D ,
Volzke H ,
Walter H ,
Weber B ,
Weinberger DR ,
Wright MJ ,
Zhou J ,
Stein JL ,
Thompson PM ,
Medland SE
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.
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