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Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

By Claudia L. Satizabal, Hieab Adams, Derrek P. Hibar, Charles C White, Jason Stein, Markus Scholz, Murali Sargurupremraj, Neda Jahanshad, Albert V Smith, Joshua Bis, Xueqiu Jian, Michelle Luciano, Edith Hofer, Alexander Teumer, Sven J. van der Lee, Jingyun Yang, Lisa R. Yanek, Tom V. Lee, Shuo Li, Yanhui Hu, Jia Yu Koh, John D. Eicher, Sylvane Desrivières, Alejandro Arias-Vasquez, Ganesh Chauhan, Lavinia Athanasiu, Miguel E Renteria, Sungeun Kim, David Höhn, Nicola J. Armstrong, Qiang Chen, Avram J. Holmes, Anouk den Braber, Iwona Kloszewska, Micael Andersson, Thomas Espeseth, Oliver Grimm, Lucija Abramovic, Saud Alhusaini, Yuri Milaneschi, Martina Papmeyer, Tomas Axelsson, Stefan Ehrlich, Roberto Roiz-Santiañez, Bernd Kraemer, Asta Kristine Håberg, Hannah J Jones, G. Bruce Pike, Dan J. Stein, Allison Stevens, Janita Bralten, Meike W Vernooij, Tamara B. Harris, Irina Filippi, Veronica Witte, Tulio Guadalupe, Katharina Wittfeld, Thomas H Mosley, James T Becker, Nhat Trung Doan, Saskia Hagenaars, Yasaman Saba, Gabriel Cuellar-Partida, Najaf Amin, Saima Hilal, Kwangsik Nho, Nazanin Karbalai, Konstantinos Arfanakis, Diane M. Becker, David Ames, Aaron L. Goldman, Phil H Lee, Dorret I Boomsma, Simon Lovestone, Sudheer Giddaluru, Stephanie Le Hellard, Manuel Mattheisen, Marc M. Bohlken, Dalia Kasperaviciute, Lianne Schmaal, Stephen M Lawrie, Ingrid Agartz, Esther Walton, Diana Tordesillas-Gutierrez, Gareth E. Davies, Jean Shin, Jonathan C. Ipser, Louis N. Vinke, Martine Hoogman, Maria J Knol, Tianye Jia, Ralph Burkhardt, Marieke Klein, Fabrice Crivello, Deborah Janowitz, Owen Carmichael, Unn K. Haukvik, Benjamin S. Aribisala, Helena Schmidt, Lachlan T Strike, Ching-Yu Cheng, Shannon L Risacher, Benno Pütz, Debra A Fleischman, Amelia A. Assareh, Venkata S. Mattay, Randy L. Buckner, Patrizia Mecocci, Anders M. Dale, Sven Cichon, Marco P Boks, Mar Matarin, Brenda WJH Penninx, V. D. Calhoun, Mallar Chakravarty, Andre Marquand, Christine Macare, Shahrzad Kharabian Masouleh, Jaap Oosterlaan, Philippe Amouyel, Katrin Hegenscheid, Jerome Rotter, Andrew J Schork, David CM Liewald, Greig I. De Zubicaray, Tien Yin Wong, Li Shen, Philipp G. Sämann, Henry Brodaty, Joshua L. Roffman, Eco JC De Geus, Magda Tsolaki, Susanne Erk, Kristel R. Van Eijk, Gianpiero L Cavalleri, Nic JA Van der Wee, Andrew M McIntosh, Randy L. Gollub, Kazima B. Bulayeva, Manon Bernard, Jennifer S. Richards, Jayandra J. Himali, Markus Loeffler, Nanda Rommelse, Wolfgang Hoffmann, Lars T. Westlye, Maria C Valdés Hernández, Narelle K. Hansell, Theo GM Van Erp, Christiane Wolf, John BJ Kwok, Bruno Vellas, Andreas Heinz, Loes Olde Loohuis, Norman Delanty, Beng-Choon Ho, Alan C. Ching, Elena Shumskaya, Albert Hofman, Dennis Van der Meer, Georg Homuth, Bruce M Psaty, Mark Bastin, Grant W Montgomery, Tatiana Foroud, Simone Reppermund, Jouke-Jan Hottenga, Andrew Simmons, Andreas Meyer-Lindenberg, Wiepke Cahn, Christopher D Whelan, Marjolein MJ Van Donkelaar, Qiong Yang, Norbert Hosten, Robert C. Green, Anbupalam Thalamuthu, Sebastian Mohnke, Hilleke Hulshoff Pol, Honghuang Lin, Clifford R. Jack, Peter R. Schofield, Thomas W. Mühleisen, Pauline Maillard, Steven Potkin, Wei Wen, Evan Fletcher, Arthur W. Toga, Oliver Gruber, Matthew Huentelman, George Davey Smith, Lenore J Launer, Lars Nyberg, Erik G. Jönsson, Benedicto Crespo-Facorro, Nastassja Koen, Douglas N. Greve, André G. Uitterlinden, Daniel R Weinberger, Vidar M. Steen, Iryna O. Fedko, Nynke A. Groenewold, Wiro J. Niessen, Roberto Toro, Christophe Tzourio, William T. Longstreth, M Kamran Ikram, Jordan W. Smoller, Marie-Jose Van Tol, Jessika E. Sussmann, Tomas Paus, Hervé Lemaître, Bernard Mazoyer, Ole A. Andreassen, Florian Holsboer, Dick Veltman, Jessica A. Turner, Zdenka Pausova, Gunter Schumann, Daan Van Rooij, Srdjan Djurovic, Ian J Deary, Katie L. McMahon, Bertram Muller-Myhsok, Rachel M Brouwer, Hilkka Soininen, Massimo Pandolfo, Thomas H. Wassink, Joshua W. Cheung, Thomas Wolfers, Jean-Luc Martinot, Marcel P. Zwiers, Matthias Nauck, Ingrid Melle, Nicholas G Martin, Ryota Kanai, Eric Westman, René S. Kahn, Sanjay M Sisodiya, Tonya White, Arvin Saremi, Hans Van Bokhoven, Han G Brunner, Henry Völzke, Margaret J Wright, Dennis Van 't Ent, Markus M Noethen, Roel A Ophoff, Jan K. Buitelaar, Guillen Fernandez, Perminder S. Sachdev, Marcella Rietschel, Neeltje EM Van Haren, Simon E. Fisher, Alexa S. Beiser, Clyde Francks, Andrew J Saykin, Karen A. Mather, Nina Romanczuk-Seiferth, Catharina A Hartman, Anita L. DeStefano, Dirk J. Heslenfeld, Michael W. Weiner, Henrik Walter, Pieter Hoekstra, Paul A Nyquist, Barbara Franke, David A. Bennett, Hans J Grabe, Andrew D. Johnson, Christopher Chen, Cornelia van Duijn, Oscar L. Lopez, Myriam Fornage, Joanna A. Wardlaw, Reinhold Schmidt, Charles DeCarli, Phillip L. De Jager, Arno Villringer, Stéphanie Debette, Vilmundur Gudnason, Sarah E Medland, Joshua M. Shulman, Paul M Thompson, Sudha Seshadri, Mohammad Arfan Ikram

Posted 28 Aug 2017
bioRxiv DOI: 10.1101/173831

Subcortical brain structures are integral to motion, consciousness, emotions, and learning. We identified common genetic variation related to the volumes of nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen, and thalamus, using genome-wide association analyses in over 40,000 individuals from CHARGE, ENIGMA and the UK-Biobank. We show that variability in subcortical volumes is heritable, and identify 25 significantly associated loci (20 novel). Annotation of these loci utilizing gene expression, methylation, and neuropathological data identified 62 candidate genes implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

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