The genetic architecture of the human cerebral cortex

神经科学生物大脑皮层皮质（解剖学）功能磁共振成像遗传建筑学人脑认知基因遗传学数量性状位点

作者

Katrina L. Grasby,Neda Jahanshad,Jodie N. Painter,Lucía Colodro‐Conde,Janita Bralten,Derrek P. Hibar,Penelope A. Lind,Fabrizio Pizzagalli,Christopher R. K. Ching,Mary McMahon,Natalia Shatokhina,Leo Charles Peek Zsembik,Sophia I. Thomopoulos,Alyssa H. Zhu,Lachlan T. Strike,Ingrid Agartz,Saud Alhusaini,Marcio Almeida,Dag Alnæs,Inge K. Amlien,Micael Andersson,Tyler Ard,Nicola J. Armstrong,Allison Ashley‐Koch,Joshua Atkins,Manon Bernard,Rachel M. Brouwer,Elizabeth E.L. Buimer,Robin Bülow,Christian Bürger,Dara M. Cannon,M. Mallar Chakravarty,Qiang Chen,Joshua W. Cheung,Baptiste Couvy‐Duchesne,Anders M. Dale,Shareefa Dalvie,Tânia Kawasaki de Araujo,Greig I. de Zubicaray,Sonja M C de Zwarte,Anouk den Braber,Nhat Trung Doan,Katharina Dohm,Stefan Ehrlich,Hannah-Ruth Engelbrecht,Susanne Erk,Chun Fan,Iryna O. Fedko,Sonya Foley,Judith M. Ford,Masaki Fukunaga,Melanie E. Garrett,Tian Ge,Sudheer Giddaluru,Aaron L. Goldman,Melissa Green,Nynke A. Groenewold,Dominik Grotegerd,Tiril P. Gurholt,Boris A. Gutman,Narelle K. Hansell,Mathew A. Harris,Marc Harrison,Courtney C. Haswell,Michael A. Hauser,Stefan Herms,Dirk J. Heslenfeld,New Fei Ho,David Hoehn,Per Hoffmann,Laurena Holleran,Martine Hoogman,Jouke‐Jan Hottenga,Masashi Ikeda,Deborah Janowitz,Iris E. Jansen,Tianye Jia,Christiane Jockwitz,Ryota Kanai,Sherif Karama,Dalia Kasperavičiūtė,Tobias Kaufmann,Sinéad Kelly,Masataka Kikuchi,Marieke Klein,Michael Knapp,Annchen R. Knodt,Bernd Krämer,Max Lam,Thomas Lancaster,Phil H. Lee,Tristram A. Lett,Lindsay B. Lewis,Íscia Lopes‐Cendes,Michelle Luciano,Fabìo Macciardi,André F. Marquand,Samuel R. Mathias,Tracy R. Melzer,Yuri Milaneschi,Nazanin Mirza‐Schreiber,José Carlos Vasques Moreira,Thomas W. Mühleisen,Bertram Müller‐Myhsok,Pablo Najt,Soichiro Nakahara,Kwangsik Nho,Loes Olde Loohuis,Dimitri Papadopoulos Orfanos,John F. Pearson,Toni L. Pitcher,Benno Pütz,Yann Quidé,Anjanibhargavi Ragothaman,Faisal Rashid,William R. Reay,Ronny Redlich,Céline S. Reinbold,Jonathan Repple,Geneviève Richard,Brandalyn C. Riedel,Shannon L. Risacher,Cristiane S. Rocha,Nina Roth Mota,Lauren E. Salminen,Arvin Saremi,Andrew J. Saykin,Fenja Schlag,Lianne Schmaal,Peter R. Schofield,Rodrigo Secolin,Chin Yang Shapland,Li Shen,Jean Shin,Elena Shumskaya,Ida Elken Sønderby,Emma Sprooten,Katherine E. Tansey,Alexander Teumer,Anbupalam Thalamuthu,Diana Tordesillas‐Gutiérrez,Jessica A. Turner,Anne Uhlmann,Costanza L. Vallerga,Dennis van der Meer,Marjolein M. J. Van Donkelaar,Liza van Eijk,Theo G.M. van Erp,Neeltje E.M. van Haren,Daan van Rooij,Marie-José van Tol,Jan H. Veldink,Ellen Verhoef,Esther Walton,Mingyuan Wang,Yunpeng Wang,Joanna M. Wardlaw,Wen Wang,Lars T. Westlye,Christopher D. Whelan,Stephanie H. Witt,Katharina Wittfeld,Christiane Wolf,Thomas Wolfers,Jing Qin Wu,Clarissa Lin Yasuda,Dario Zaremba,Zuo Zhang,Marcel P. Zwiers,Éric Artiges,Amelia A. Assareh,Rosa Ayesa-Arriola,Ayşenil Belger,Christine Lycke Brandt,Gregory G. Brown,Sven Cichon,Joanne E. Curran,Gareth E. Davies,Franziska Degenhardt,Michelle F. Dennis,Bruno Dietsche,Srdjan Djurovic,Colin P. Doherty,Ryan Espiritu,Daniel Garijo,Yolanda Gil,Penny Gowland,Robert C. Green,Alexander N. Häusler,Walter Heindel,Beng-Choon Ho,Wolfgang Hoffmann,Florian Holsboer,Georg Homuth,Norbert Hosten,Clifford R. Jack,MiHyun Jang,Andreas Jansen,Nathan A. Kimbrel,Knut K. Kolskår,Sanne Koops,Axel Krug,Kelvin O. Lim,Jurjen J. Luykx,Daniel H. Mathalon,Karen A. Mather,Venkata S. Mattay,Sarah Matthews,Jaqueline Mayoral Van Son,Sarah McEwen,Ingrid Melle,Derek W. Morris,Bryon A. Mueller,Matthias Nauck,Jan Egil Nordvik,Markus M. Nöthen,Daniel S. O'Leary,Nils Opel,Marie‐Laure Paillère Martinot,G. Bruce Pike,Adrian Preda,Erin Burke Quinlan,Paul E. Rasser,Varun Ratnakar,Simone Reppermund,Vidar M. Steen,Paul A. Tooney,Fábio Torres,Dick J. Veltman,James T. Voyvodic,Robert Whelan,Tonya White,Hidenaga Yamamori,Hieab H.H. Adams,Joshua C. Bis,Stéphanie Debette,Charles DeCarli,Myriam Fornage,Vilmundur Gudnason,Edith Hofer,M. Arfan Ikram,Lenore J. Launer,W. T. Longstreth,Oscar L. López,Bernard Mazoyer,Thomas H. Mosley,Gennady V. Roshchupkin,Claudia L. Satizábal,Reinhold Schmidt,Sudha Seshadri,Qiong Yang,Marina K. M. Alvim,David Ames,Tim Anderson,Ole A. Andreassen,Alejandro Arias-Vásquez,Mark E. Bastin,Bernhard T. Baune,Jean C. Beckham,John Blangero,Dorret I. Boomsma,Henry Brodaty,Han G. Brunner,Randy L. Buckner,Jan K. Buitelaar,Juan Bustillo,Wiepke Cahn,Murray J. Cairns,Vince D. Calhoun,Vaughan J. Carr,Xavier Caseras,Svenja Caspers,Gianpiero L. Cavalleri,Fernando Cendes,Aiden Corvin,Benedicto Crespo‐Facorro,John C. Dalrymple‐Alford,Udo Dannlowski,Eco J. C. de Geus,Ian J. Deary,Norman Delanty,Chantal Depondt,Sylvane Desrivières,Gary Donohoe,Thomas Espeseth,Guillén Fernández,Simon E. Fisher,Herta Flor,Andreas J. Forstner,Clyde Francks,Barbara Franke,David C. Glahn,Randy L. Gollub,Hans J. Grabe,Oliver Gruber,Asta Håberg,Ahmad R. Hariri,Catharina A. Hartman,Ryota Hashimoto,Andreas Heinz,Frans Henskens,Manon H. J. Hillegers,Pieter J. Hoekstra,Avram J. Holmes,L. Elliot Hong,William D. Hopkins,Hilleke E. Hulshoff Pol,Terry L. Jernigan,Erik G. Jönsson,René S. Kahn,Martin A. Kennedy,Tilo Kircher,Peter Kochunov,John B. Kwok,Stéphanie Le Hellard,Carmel M. Loughland,Nicholas G. Martin,Jean‐Luc Martinot,Colm McDonald,Katie L. McMahon,Andreas Meyer‐Lindenberg,Patricia T. Michie,Rajendra A. Morey,Bryan Mowry,Lars Nyberg,Jaap Oosterlaan,Roel A. Ophoff,Christos Pantelis,Tomáš Paus,Zdenka Pausová,Brenda W.J.H. Penninx,Tinca J. C. Polderman,Daniëlle Posthuma,Marcella Rietschel,Joshua L. Roffman,Laura M. Rowland,Perminder S. Sachdev,Philipp G. Sämann,Ulrich Schall,Günter Schumann,Rodney J. Scott,Kang Sim,Sanjay M. Sisodiya,Jordan W. Smoller,Iris Sommer,Beaté St Pourcain,Dan J. Stein,Arthur W. Toga,Julian N. Trollor,Nic J.A. van der Wee,Dennis van ‘t Ent,Henry Völzke,Henrik Walter,Bernd Weber,Daniel R. Weinberger,Margaret J. Wright,Juan Zhou,Jason L. Stein,Paul M. Thompson,Sarah E. Medland

出处

期刊：Science [American Association for the Advancement of Science (AAAS)]
日期：2020-03-20 卷期号：367 (6484) 被引量：439

标识

DOI：10.1126/science.aay6690

摘要

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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The genetic architecture of the human cerebral cortex

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