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

By Claudia L Satizabal, Hieab H. H. Adams, Derrek P Hibar, Charles C White, Jason L Stein, Markus Scholz, Murali Sargurupremraj, Neda Jahanshad, Albert V Smith, Joshua C 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 Desrivieres, Alejandro Arias-Vasquez, Ganesh Chauhan, Lavinia Athanasiu, Miguel E. Renteria, Sungeun Kim, David Hohn, 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-Santianez, Bernd Kraemer, Asta K. Haberg, Hannah J. Jones, G. Bruce Pike, Dan J. Stein, Allison Stevens, Janita Bralten, Meike W Vernooij, Tamara B. Harris, Irina Filippi, A. Veronica Witte, Tulio Guadalupe, Katharina Wittfeld, Thomas H Mosley, James T Becker, Nhat Trung Doan, Saskia P 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 Putz, 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 W. J. H. Penninx, Vince D. Calhoun, M Mallar Chakravarty, Andre Marquand, Christine Macare, Shahrzad Kharabian Masouleh, Jaap Oosterlaan, Philippe Amouyel, Katrin Hegenscheid, Jerome I Rotter, Andrew J Schork, David C. M. Liewald, Greig I. De Zubicaray, Tien Yin Wong, Li Shen, Philipp G. Samann, Henry Brodaty, Joshua L. Roffman, Eco J. C. De Geus, Magda Tsolaki, Susanne Erk, Kristel R. Van Eijk, Gianpiero L. Cavalleri, Nic J. A. 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. Valdes Hernandez, Narelle K. Hansell, Theo G. M. Van Erp, Christiane Wolf, John B. J. Kwok, Bruno Vellas, Andreas Heinz, Loes M Olde Loohuis, Norman Delanty, Beng-Choon Ho, Christopher R. K. Ching, Elena Shumskaya, Baljeet Singh, Albert Hofman, Dennis Van der Meer, Georg Homuth, Bruce M Psaty, Mark Bastin, Grant W. Montgomery, Tatiana M. Foroud, Simone Reppermund, Jouke-Jan Hottenga, Andrew Simmons, Andreas Meyer-Lindenberg, Wiepke Cahn, Christopher D. Whelan, Marjolein M. J. Van Donkelaar, Qiong Yang, Norbert Hosten, Robert C. Green, Anbupalam Thalamuthu, Sebastian Mohnke, Hilleke E. Hulshoff Pol, Honghuang Lin, Clifford R. Jack, Peter R. Schofield, Thomas W. Muhleisen, Pauline Maillard, Steven G. Potkin, Wei Wen, Evan Fletcher, Arthur W Toga, Oliver Gruber, Matthew Huentelman, George Davey Smith, Lenore J Launer, Lars Nyberg, Erik G Jonsson, Benedicto Crespo-Facorro, Nastassja Koen, Douglas Greve, Andre 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, Herve Lemaitre, Bernard Mazoyer, Ole A Andreassen, Florian Holsboer, Chantal Depondt, Dick J. 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, Rene S Kahn, Sanjay M. Sisodiya, Tonya White, Arvin Saremi, Hans van Bokhoven, Han G Brunner, Henry Volzke, Margaret J Wright, Dennis Van 't Ent, Markus M Nothen, Roel A. Ophoff, Jan K Buitelaar, Guillen Fernandez, Perminder S. Sachdev, Marcella Rietschel, Neeltje E. M. 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 J. Hoekstra, Paul A Nyquist, Barbara Franke, David A. Bennett, Hans J Grabe, Andrew D. Johnson, Christopher Chen, Cornelia M. van Duijn, Oscar L. Lopez, Myriam Fornage, Joanna A. Wardlaw, Reinhold Schmidt, Charles DeCarli, Philip L. De Jager, Arno Villringer, Stephanie Debette, Vilmundur Gudnason, Sarah E Medland, Joshua M Shulman, Paul M Thompson, Sudha Seshadri, M 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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