@article {Shin404558, author = {Jean Shin and Shaojie Ma and Edith Hofer and Yash Patel and Gennady V. Roshchupkin and Andr{\'e} M. Sousa and Xueqiu Jian and Rebecca F Gottesman and Thomas H Mosley and Myriam Fornage and Yasaman Saba and Lukas Pirpamer and Reinhold Schmidt and Helena Schmidt and Bernard Mazoyer and Amaia Carrion-Castillo and Joshua C Bis and Shuo Li and Qiong Yang and Michelle Luciano and Sherif Karama and Lindsay Lewis and Mark E Bastin and Matthew A Harris and Ian J. Deary and Joanna M. Wardlaw and Markus Scholz and Markus Loeffler and Veronica Witte and Frauke Beyer and Arno Villringer and Hieab H.H.H. Adams and M. Arfan Ikram and William S Kremen and Nathan A Gillespie and the ENIGMA Consortium and Katrina L. Grasby and Neda Jahanshad and Jodie N. Painter and Luc{\'\i}a Colodro-Conde and Janita Bralten and Derrek P. Hibar and Penelope A. Lind and Fabrizio Pizzagalli and Christopher R.K. Ching and Mary Agnes B. McMahon and Natalia Shatokhina and Leo C.P. Zsembik and Ingrid Agartz and Saud Alhusaini and Marcio A.A. Almeida and Dag Aln{\ae}s and Inge K. Amlien and Micael Andersson and Tyler Ard and Nicola J. Armstrong and Allison Ashley-Koch and Manon Bernard and Rachel M. Brouwer and Elizabeth E.L. Buimer and Robin B{\"u}low and Christian B{\"u}rger and Dara M. Cannon and Mallar Chakravarty and Qiang Chen and Joshua W. Cheung and Baptiste Couvy-Duchesne and Anders M. Dale and Shareefa Dalvie and T{\^a}nia K. de Araujo and Greig I. de Zubicaray and Sonja M.C. de Zwarte and Anouk den Braber and Nhat Trung Doan and Katharina Dohm and Stefan Ehrlich and Hannah-Ruth Engelbrecht and Susanne Erk and Chun Chieh Fan and Iryna O. Fedko and Sonya F. Foley and Judith M. Ford and Masaki Fukunaga and Melanie E. Garrett and Tian Ge and Sudheer Giddaluru and Aaron L. Goldman and Nynke A. Groenewold and Dominik Grotegerd and Tiril P. Gurholt and Boris A. Gutman and Narelle K. Hansell and Mathew A.Harris and Marc B. Harrison and Courtney C. Haswell and Michael Hauser and Dirk J. Heslenfeld and David Hoehn and Laurena Holleran and Martine Hoogman and Jouke-Jan Hottenga and Masashi Ikeda and Deborah Janowitz and Iris E. Jansen and Tianye Jia and Christiane Jockwitz and Ryota Kanai and Sherif Karama and Dalia Kasperaviciute and Tobias Kaufmann and Sinead Kelly and Masataka Kikuchi and Marieke Klein and Michael Knapp and Annchen R. Knodt and Bernd Kr{\"a}mer and Thomas M. Lancaster and Phil H. Lee and Tristram A. Lett and Lindsay B. Lewis and Iscia Lopes-Cendes and Michelle Luciano and Fabio Macciardi and Andre F. Marquand and Samuel R. Mathias and Tracy R. Melzer and Yuri Milaneschi and Nazanin Mirza-Schreiber and Jose C.V. Moreira and Thomas W. M{\"u}hleisen and Bertram M{\"u}ller-Myhsok and Pablo Najt and Soichiro Nakahara and Kwangsik Nho and Loes M. Olde Loohuis and Dimitri Papadopoulos Orfanos and John F. Pearson and Toni L. Pitcher and Benno P{\"u}tz and Anjanibhargavi Ragothaman and Faisal M. Rashid and Ronny Redlich and C{\'e}line S. Reinbold and Jonathan Repple and Genevi{\`e}ve Richard and Brandalyn C. Riedel and Shannon L. Risacher and Cristiane S. Rocha and Nina Roth Mota and Lauren Salminen and Arvin Saremi and Andrew J. Saykin and Fenja Schlag and Lianne Schmaal and Peter R. Schofield and Rodrigo Secolin and Chin Yang Shapland and Li Shen and Jean Shin and Elena Shumskaya and Ida E. S{\o}nderby and Emma Sprooten and Lachlan T. Strike and Katherine E. Tansey and Alexander Teumer and Anbupalam Thalamuthu and Sophia I. Thomopoulos and Diana Tordesillas-Guti{\'e}rrez and Jessica A. Turner and Anne Uhlmann and Costanza Ludovica Vallerga and Dennis van der Meer and Marjolein M.J. van Donkelaar and Liza van Eijk and Theo G.M. van Erp and Neeltje E.M. van Haren and Daan van Rooij and Marie-Jos{\'e} van Tol and Jan H. Veldink and Ellen Verhoef and Esther Walton and Yunpeng Wang and Joanna M. Wardlaw and Wei Wen and Lars T. Westlye and Christopher D. Whelan and Stephanie H. Witt and Katharina Wittfeld and Christiane Wolf and Thomas Wolfers and Clarissa L. Yasuda and Dario Zaremba and Zuo Zhang and Alyssa H. Zhu and Marcel P. Zwiers and Eric Artiges and Amelia A. Assareh and Rosa Ayesa-Arriola and Aysenil Belger and Christine L. Brandt and Gregory G. Brown and Sven Cichon and Joanne E. Curran and Gareth E. Davies and Franziska Degenhardt and Bruno Dietsche and Srdjan Djurovic and Colin P. Doherty and Ryan Espiritu and Daniel Garijo and Yolanda Gil and Penny A. Gowland and Robert C. Green and Alexander N. H{\"a}usler and Walter Heindel and Beng-Choon Ho and Wolfgang U. Hoffmann and Florian Holsboer and Georg Homuth and Norbert Hosten and Clifford R. Jack and MiHyun Jang and Andreas Jansen and Knut Kolsk{\r a}r and Sanne Koops and Axel Krug and Kelvin O. Lim and Jurjen J. Luykx and Daniel H. Mathalon and Karen A. Mather and Venkata S. Mattay and Sarah Matthews and Jaqueline Mayoral Van Son and Sarah C. McEwen and Ingrid Melle and Derek W. Morris and Bryon A. Mueller and Matthias Nauck and Jan E. Nordvik and Markus M. N{\"o}then and Daniel S. O{\textquoteright}Leary and Nils Opel and Marie-Laure Paill{\`e}re Martinot and G. Bruce Pike and Adrian Preda and Erin B. Quinlan and Varun Ratnakar and Simone Reppermund and Vidar M. Steen and F{\'a}bio R. Torres and Dick J. Veltman and James T. Voyvodic and Robert Whelan and Tonya White and Hidenaga Yamamori and Marina K.M. Alvim and David Ames and Tim J. Anderson and Ole A. Andreassen and Alejandro Arias-Vasquez and Mark E. Bastin and Bernhard T. Baune and John Blangero and Dorret I. Boomsma and Henry Brodaty and Han G. Brunner and Randy L. Buckner and Jan K. Buitelaar and Juan R. Bustillo and Wiepke Cahn and Vince Calhoun and Xavier Caseras and Svenja Caspers and Gianpiero L. Cavalleri and Fernando Cendes and Aiden Corvin and Benedicto Crespo-Facorro and John C. Dalrymple-Alford and Udo Dannlowski and Eco J.C. de Geus and Ian J. Deary and Norman Delanty and Chantal Depondt and Sylvane Desrivi{\`e}res and Gary Donohoe and Thomas Espeseth and Guill{\'e}n Fern{\'a}ndez and Simon E. Fisher and Herta Flor and Andreas J. Forstner and Clyde Francks and Barbara Franke and David C. Glahn and Randy L. Gollub and Hans J. Grabe and Oliver Gruber and Asta K. H{\r a}berg and Ahmad R. Hariri and Catharina A. Hartman and Ryota Hashimoto and Andreas Heinz and Manon H.J. Hillegers and Pieter J. Hoekstra and Avram J. Holmes and L. Elliot Hong and William D. Hopkins and Hilleke E. Hulshoff Pol and Terry L. Jernigan and Erik G. J{\"o}nsson and Ren{\'e} S. Kahn and Martin A. Kennedy and Tilo T.J. Kircher and Peter Kochunov and John B.J. Kwok and Stephanie Le Hellard and Nicholas G. Martin and Jean - Luc Martinot and Colm McDonald and Katie L. McMahon and Andreas Meyer-Lindenberg and Rajendra A. Morey and Lars Nyberg and Jaap Oosterlaan and Roel A.Ophoff and Tom{\'a}{\v s} Paus and Zdenka Pausova and Tinca J.C. Polderman and Danielle Posthuma and Marcella Rietschel and Joshua L. Roffman and Laura M. Rowland and Perminder S. Sachdev and Philipp G. S{\"a}mann and Gunter Schumann and Kang Sim and Sanjay M. Sisodiya and Jordan W. Smoller and Iris E. Sommer and Beate St Pourcain and Dan J. Stein and Arthur W. Toga and Julian N. Trollor and Nic J.A. Van der Wee and Dennis van {\textquoteright}t Ent and Henry V{\"o}lzke and Henrik Walter and Bernd Weber and Daniel R. Weinberger and Margaret J. Wright and Juan Zhou and Jason L. Stein and Paul M. Thompson and Sarah E. Medland and Nenad Sestan and Zdenka Pausova and Sudha Seshadri and Tomas Paus and for the neuroCHARGE Working Group}, title = {Planar cell polarity pathway and development of the human visual cortex}, elocation-id = {404558}, year = {2018}, doi = {10.1101/404558}, publisher = {Cold Spring Harbor Laboratory}, abstract = {Radial unit hypothesis provides a framework for global (proliferation) and regional (distribution) expansion of the primate cerebral cortex1. Using principal component analysis (PCA), we have identified cortical regions with shared variance in their surface area and cortical thickness, respectively, segmented from magnetic resonance images obtained in 19,171 participants. We then carried out meta-analyses of genome-wide association studies of the first two principal components for each phenotype. For surface area (but not cortical thickness), we have detected strong associations between each of the components and single nucleotide polymorphisms in a number of gene loci. The first ({\textquotedblleft}global{\textquotedblright}) component was associated mainly with loci on chromosome 17 (8.8{\texttimes}10 -26 <= p <= 2.3{\texttimes}10-14), including those detected previously as linked with intracranial volume2,3. The second (regional) component captured shared variation in the surface area of the primary and adjacent secondary visual cortices and showed a robust association with polymorphisms in a locus on chromosome 14 containing Disheveled Associated Activator of Morphogenesis 1 (DAAM1; p=3.0{\texttimes}10-32). DAAM1 is a key component in the planar-cell-polarity signaling pathway4,5. In follow-up studies, we have focused on the latter finding and established that: (1) DAAM1 is highly expressed between 12th and 22nd post-conception weeks in the human cerebral cortex; (2) genes co-expressed with DAAM1 in the primary visual cortex are enriched in mitochondria-related pathways; and (3) volume of the lateral geniculate nucleus, which projects to regions of the visual cortex staining for cytochrome oxidase (a mitochondrial enzyme), correlates with the surface area of the visual cortex in major-allele homozygotes but not in carriers of the minor allele. Altogether, we speculate that - in concert with thalamocortical input to cortical subplate - DAAM1 enables migration of neurons to cytochrome-oxidase rich regions of the visual cortex, and, in turn, facilitates regional expansion of this set of cortical regions during development.}, URL = {https://www.biorxiv.org/content/early/2018/08/31/404558}, eprint = {https://www.biorxiv.org/content/early/2018/08/31/404558.full.pdf}, journal = {bioRxiv} }