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The genetic architecture of the human cerebral cortex.

Katrina L GrasbyNeda JahanshadJodie N PainterLucia Colodro-CondeJanita BraltenDerrek P HibarPenelope A LindFabrizio PizzagalliChristopher R K ChingMary Agnes B McMahonNatalia ShatokhinaLeo C P ZsembikSophia I ThomopoulosAlyssa H ZhuLachlan T StrikeIngrid AgartzSaud AlhusainiMarcio A A AlmeidaDag AlnæsInge K AmlienMicael AnderssonTyler ArdNicola J ArmstrongAllison Ashley-KochJoshua R AtkinsManon BernardRachel M BrouwerElizabeth E L BuimerRobin BülowChristian BürgerDara M CannonMallar ChakravartyQiang ChenJoshua W CheungBaptiste Couvy-DuchesneAnders M DaleShareefa DalvieTânia Kawasaki de AraujoGreig I de ZubicaraySonja M C de ZwarteAnouk den BraberNhat Trung DoanKatharina DohmStefan EhrlichHannah-Ruth EngelbrechtSusanne ErkChun Chieh FanIryna O FedkoSonya F FoleyJudith M FordMasaki FukunagaMelanie E GarrettTian GeSudheer GiddaluruAaron L GoldmanMelissa Jane GreenNynke A GroenewoldDominik GrotegerdTiril Pedersen GurholtBoris A GutmanNarelle K HansellMathew A HarrisMarc B HarrisonCourtney C HaswellMichael A HauserStefan HermsDirk J HeslenfeldNew Fei HoDavid HoehnPer HoffmannLaurena HolleranMartine HoogmanJouke- Jan HottengaKyung Sue HongDeborah JanowitzIris E JansenTianye JiaChristiane JockwitzRyota KanaiSherif KaramaDalia KasperaviciuteTobias KaufmannSinead KellyMasataka KikuchiMarieke KleinMichael KnappAnnchen R KnodtBernd KrämerMax LamThomas M LancasterPhil H LeeTristram A LettLindsay B LewisIscia Lopes-CendesMichelle LucianoFabio MacciardiAndre F MarquandSamuel R MathiasTracy R MelzerYuri MilaneschiNazanin Mirza-SchreiberJose C V MoreiraThomas W MühleisenBertram Müller-MyhsokPablo NajtSoichiro NakaharaKwangsik NhoLoes M Olde LoohuisDimitri Papadopoulos OrfanosJohn F PearsonToni L PitcherBenno PützYann QuidéAnjanibhargavi RagothamanFaisal M RashidWilliam R ReayRonny RedlichCéline S ReinboldJonathan ReppleGenevieve RichardBrandalyn C RiedelShannon L RisacherCristiane S RochaNina Roth MotaLauren E SalminenArvin SaremiAndrew J SaykinFenja SchlagLianne SchmaalPeter R SchofieldRodrigo SecolinChin Yang ShaplandLi ShenJean ShinElena ShumskayaIda E SønderbyEmma SprootenKatherine E TanseyAlexander TeumerAnbupalam ThalamuthuDiana Tordesillas-GutiérrezJessica A TurnerAnne UhlmannCostanza Ludovica VallergaDennis van der MeerMarjolein M J van DonkelaarLiza van EijkTheo G M van ErpNeeltje E M van HarenDaan van RooijMarie-José Van TolJan Herman VeldinkEllen VerhoefEsther WaltonMingyuan WangYunpeng WangJoanna Marguerite WardlawWei WenLars Tjelta WestlyeChristopher D WhelanStephanie-H WittKatharina WittfeldChristiane WolfThomas WolfersJing Qin WuClarissa Lin YasudaDario ZarembaZuo ZhangMarcel P ZwiersEric ArtigesAmelia A AssarehRosa Ayesa-ArriolaAysenil BelgerChristine L BrandtGregory G BrownSven CichonJoanne E CurranGareth E DaviesFranziska DegenhardtMichelle F DennisBruno DietscheSrdjan DjurovicColin P DohertyRyan EspirituDaniel GarijoYolanda GilPenny A GowlandRobert C GreenAlexander Niklas HäuslerWalter HeindelBeng-Choon HoWolfgang U HoffmannFlorian HolsboerGeorg HomuthNorbert HostenClifford R JackMiHyun JangAndreas JansenNathan A KimbrelKnut KolskårSanne KoopsAxel KrugKelvin O LimJurjen J LuykxDaniel H MathalonKaren A MatherVenkata S MattaySarah MatthewsJaqueline Mayoral Van SonSarah C McEwenIngrid MelleDerek W MorrisBryon A MuellerMatthias NauckJan Egil NordvikMarkus Maria NöthenDaniel S O'LearyNils OpelMarie-Laure Paillère MartinotG Bruce PikeAdrian PredaErin B QuinlanPaul E RasserVarun RatnakarSimone ReppermundVidar M SteenPaul A TooneyFábio R TorresDick J VeltmanJames T VoyvodicRobert WhelanTonya WhiteHidenaga YamamoriHieab H H AdamsJoshua C BisStephanie DebetteCharles DecarliMyriam FornageVilmundur GudnasonEdith HoferM Arfan IkramLenore LaunerW T LongstrethOscar L LopezBernard MazoyerThomas H MosleyGennady V RoshchupkinClaudia L SatizabalReinhold SchmidtSudha SeshadriQiong Yangnull nullnull nullnull nullnull nullnull nullnull nullMarina K M AlvimDavid AmesTim J AndersonOle Andreas AndreassenAlejandro Arias-VasquezMark E BastinBernhard T BauneJean C BeckhamJohn BlangeroDorret I BoomsmaHenry BrodatyHan G BrunnerRandy L BucknerJan K BuitelaarJuan R BustilloWiepke CahnMurray J CairnsVince D CalhounVaughan J CarrXavier CaserasSvenja CaspersGianpiero L CavalleriFernando CendesAiden CorvinJacqueline Mayoral-van SonJohn C Dalrymple-AlfordUdo DannlowskiEco J C N de GeusIan J DearyNorman DelantyChantal DepondtSylvane DesrivieresGary DonohoeThomas EspesethGuillén FernándezSimon E FisherStephan F MiedlAndreas J ForstnerClyde FrancksBarbara FrankeDavid C GlahnRandy L GollubHans J GrabeOliver GruberAsta Kristine HåbergAhmad R HaririCatharina A HartmanRyota HashimotoAndreas HeinzFrans A HenskensManon H J HillegersPieter J HoekstraAvram J HomesL Elliot HongWilliam D HopkinsHilleke E Hulshoff PolTerry L JerniganErik G JönssonRené S KahnMartin Alexander KennedyTilo T J KircherPeter KochunovJohn B J KwokStephanie Le HellardCarmel M LoughlandNicholas G MartinJean-Luc MartinotColm McDonaldKatie L McmahonAndreas Meyer-LindenbergPatricia T MichieRajendra A MoreyBryan MowryLars NybergJaap OosterlaanRoel A OphoffChristos PantelisTomas PausZdenka PausovaBrenda W J H PenninxTinca J C PoldermanDanielle PosthumaMarcella D C RietschelJoshua L RoffmanLaura M RowlandPerminder Singh SachdevPhilipp G SämannUlrich SchallGunter SchumannRodney J ScottKang SimSanjay M SisodiyaJordan W SmollerIris E C SommerBeate St PourcainDan J SteinArthur W TogaJulian N TrollorNic J A van der WeeDennis van 't EntHenry VölzkeHenrik WalterBernd WeberDaniel R WeinbergerMargaret J WrightJuan Helen ZhouJason L SteinPaul M ThompsonSarah E Medlandnull null
Published in: Science (New York, N.Y.) (2020)
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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