Novel genetic loci underlying human intracranial volume identified through genome-wide association
Creators: name: Walter, Henrik
name: McMahon, Katie L
name: Marquand, Andre
name: Yang, Jingyun
name: Aggarwal, Neelum T
name: Thalamuthu, Anbupalam
name: Cavalleri, Gianpiero L
name: Hoffmann, Wolfgang
name: Hardy, John
name: Brunner, Han G
name: Pike, G Bruce
name: Drevets, Wayne C
name: Gibbs, J Raphael
name: White, Tonya
name: Sussmann, Jessika E
name: Van Erp, Theo G M
name: Kasperaviciute, Dalia
name: Van Der Lugt, Aad
name: Nugent, Allison C
name: Medland, Sarah E
name: Ophoff, Roel A
name: Fedko, Iryna O
name: Ehrlich, Stefan
name: Jack, Clifford R
name: Ferrucci, Luigi
name: Hilal, Saima
name: Cahn, Wiepke
name: Tordesillas-Gutierrez, Diana
name: Paus, Tomas
name: Le Hellard, Stephanie
name: Van Tol, Marie-Jose
name: Turner, Jessica A
name: Rietschel, Marcella
name: Gudnason, Vilmundur
name: Matarin, Mar
name: Tiemeier, Henning
name: Aribisala, Benjamin S
name: Pappa, Irene
name: Toro, Roberto
name: Longstreth, 
name: Jenkinson, Mark
name: Rajan, Kumar B
name: Davies, Gareth E
name: Liu, Xinmin
name: Guelfi, Sebastian
name: Nichols, Thomas E
name: Buitelaar, Jan K
name: Montgomery, Grant W
name: Göring, Harald H H
name: Smoller, Jordan W
name: McDonald, Colm
name: Pütz, Benno
name: Duggirala, Ravi
name: Jahanshad, Neda
name: Sisodiya, Sanjay M
name: Holsboer, Florian
name: Yanek, Lisa R
name: Sprooten, Emma
name: Roiz-Santiañez, Roberto
name: Franke, Barbara
name: Chauhan, Ganesh
name: Fornage, Myriam
name: Jukema, J Wouter
name: Royle, Natalie A
name: Cichon, Sven
name: Schumann, Gunter
name: Gruber, Oliver
name: Völzke, Henry
name: Rommelse, Nanda
name: Blanken, Laura M E
name: Wassink, Thomas H
name: Van Duijn, Cornelia M
name: Giddaluru, Sudheer
name: Delanty, Norman
name: Corvin, Aiden
name: Nöthen, Markus M
name: Bastin, Mark E
name: Doan, Nhat Trung
name: Agartz, Ingrid
name: Olvera, Rene L
name: Alhusaini, Saud
name: Hottenga, Jouke-Jan
name: Bernard, Manon
name: Zonderman, Alan B
name: Lopez, Lorna M
name: Becker, James T
name: Czisch, Michael
name: Lopez, Oscar L
name: Schmidt, Helena
name: Trabzuni, Daniah
name: Djurovic, Srdjan
name: Westlye, Lars T
name: Guadalupe, Tulio
name: Axelsson, Tomas
name: Simmons, Andy
name: Jia, Tianye
name: Amin, Najaf
name: Arias-Vasquez, Alejandro
name: Milaneschi, Yuri
name: Erk, Susanne
name: Armstrong, Nicola J
name: Ge, Tian
name: Lemaître, Hervé
name: Destefano, Anita L
name: Ching, Christopher R K
name: Ohi, Kazutaka
name: Richards, Jennifer S
name: Shumskaya, Elena
name: Andersson, Micael
name: Vaidya, Dhananjay
name: Seshadri, Sudha
name: Ryten, Mina
name: McKay, David R
name: Trompet, Stella
name: Mattay, Venkata S
name: Van't Ent, Dennis
name: Hibar, Derrek P
name: Wolf, Christiane
name: Roffman, Joshua L
name: Risacher, Shannon L
name: Goldman, Aaron L
name: Van Der Brug, Marcel
name: Pandolfo, Massimo
name: Hosten, Norbert
name: Pirpamer, Lukas
name: Kwok, John B
name: Boomsma, Dorret I
name: Xu, Bing
name: Wright, Margaret J
name: Zijdenbos, Alex
name: Weiner, Michael W
name: Windham, Beverly G
name: Van Der Grond, Jeroen
name: Singleton, Andrew
name: Wright, Clinton B
name: Steen, Vidar M
name: Mosley, Thomas H
name: Van Der Lee, Sven J
name: De Jager, Philip L
name: Wardlaw, Joanna M
name: Muetzel, Ryan L
name: Brickman, Adam M
name: Rotter, Jerome I
name: Van Donkelaar, Marjolein M J
name: Jönsson, Erik G
name: Martin, Nicholas G
name: Teumer, Alexander
name: Cannon, Dara M
name: Meyer-Lindenberg, Andreas
name: Hansell, Narelle K
name: Lovestone, Simon
name: Martinot, Jean-Luc
name: Fleischman, Debra A
name: Smith, Albert V
name: Kanai, Ryota
name: Vernooij, Meike W
name: Arepalli, Sampath
name: Psaty, Bruce M
name: Lawrie, Stephen M
name: Strike, Lachlan T
name: Bohlken, Marc M
name: Blangero, John
name: Zielke, H Ronald
name: Melle, Ingrid
name: Heinz, Andreas
name: Bralten, Janita
name: Barral, Sandra
name: Hoekstra, Pieter J
name: Cuellar-Partida, Gabriel
name: Mattheisen, Manuel
name: Curran, Joanne E
name: Hofman, Albert
name: Nyquist, Paul A
name: Mirza-Schreiber, Nazanin
name: Schmaal, Lianne
name: Nho, Kwangsik
name: Van Eijk, Kristel R
name: Pudas, Sara
name: Desrivières, Sylvane
name: Bulayeva, Kazima B
name: Soininen, Hilkka
name: Zwiers, Marcel P
name: Bennett, David A
name: Potkin, Steven G
name: Launer, Lenore J
name: Kim, Sungeun
name: Deary, Ian J
name: Shin, Jean
name: Hashimoto, Ryota
name: Brouwer, Rachel M
name: Papmeyer, Martina
name: Chen, Christopher
name: Braber, Anouk Den
name: Filippi, Irina
name: Liewald, David C M
name: Fisher, Simon E
name: Vardarajan, Badri N
name: Martinez, Oliver
name: Sämann, Philipp G
name: Mohnke, Sebastian
name: Kraemer, Bernd
name: Janowitz, Deborah
name: Gottesman, Rebecca F
name: Smith, Colin
name: Van Der Wee, Nic J A
name: Kloszewska, Iwona
name: Bis, Joshua C
name: Reppermund, Simone
name: Hernandez, Dena G
name: Veltman, Dick J
name: Weinberger, Daniel R
name: Sacco, Ralph L
name: Beiser, Alexa
name: Espeseth, Thomas
name: Beecham, Ashley H
name: Saykin, Andrew J
name: Penninx, Brenda W J H
name: Ikram, M Kamran
name: Arfanakis, Konstantinos
name: Buckner, Randy L
name: Assareh, Amelia A
name: Rundek, Tatjana
name: Stott, David J
name: Wen, Wei
name: Van Bokhoven, Hans
name: Nauck, Matthias
name: Niessen, Wiro J
name: Hoehn, David
name: Abramovic, Lucija
name: Cookson, Mark R
name: Hartman, Catharina A
name: Uitterlinden, Andre G
name: Weale, Michael E
name: Müller-Myhsok, Bertram
name: Srikanth, Velandai
name: Morris, Derek W
name: Maniega, Susana Muñoz
name: Wong, Tien Y
name: Kochunov, Peter
name: Foroud, Tatiana M
name: Holmes, Avram J
name: Dillman, Allissa
name: Hofer, Edith
name: Kahn, René S
name: Woldehawariat, Girma
name: Mazoyer, Bernard
name: De Geus, Eco J C
name: Grimm, Oliver
name: Mühleisen, Thomas W
name: Troncoso, Juan
name: Macare, Christine
name: McWhirter, Rebekah
name: Francks, Clyde
name: Hegenscheid, Katrin
name: Schmidt, Reinhold
name: Luciano, Michelle
name: Thomson, Russell
name: Chakravarty, M Mallar
name: Pol, Hilleke E Hulshoff
name: Thompson, Paul M.
name: Greven, Corina U
name: Depondt, Chantal
name: Chen, Qiang
name: Homuth, Georg
name: Cheng, Ching-Yu
name: Van Der Meer, Dennis
name: Chouraki, Vincent
name: Ramasamy, Adaikalavan
name: Debette, Stéphanie
name: McMahon, Francis J
name: Fukunaga, Masaki
name: Evans, Denis A
name: Amouyel, Philippe
name: Traynor, Bryan J
name: Rentería, Miguel E
name: Blanton, Susan H
name: Tzourio, Christophe
name: Griswold, Michael E
name: Schofield, Peter R
name: Crespo-Facorro, Benedicto
name: Liao, Jiemin
name: Sachdev, Perminder S
name: Satizabal, Claudia L
name: Longo, Dan L
name: Winkler, Anderson M
name: Dale, Anders M
name: Sigurdsson, Sigurdur
name: Klein, Marieke
name: Haukvik, Unn K
name: Dyer, Thomas D
name: Glahn, David C
name: Walton, Esther
name: Ikram, M Arfan
name: Almasy, Laura
name: Athanasiu, Lavinia
name: Carmichael, Owen
name: Mather, Karen A
name: Rose, Emma J
name: Stein, Jason L
name: Donohoe, Gary
name: Oosterlaan, Jaap
name: Van Haren, Neeltje E M
name: Fox, Peter T
name: Ho, Beng-Choon
name: Andreassen, Ole A
name: Johnson, Robert
name: Whelan, Christopher D
name: Ford, Ian
name: Heslenfeld, Dirk J
name: Boks, Marco P
name: Loohuis, Loes M Olde
name: Westman, Eric
name: Brodaty, Henry
name: Knopman, David S
name: Romanczuk-Seiferth, Nina
name: Gollub, Randy L
name: Shen, Li
name: Mecocci, Patrizia
name: De Zubicaray, Greig I
name: Becker, Diane M
name: Wittfeld, Katharina
name: Hass, Johanna
name: De Craen, Anton J M
name: Grabe, Hans J
name: Hoogman, Martine
name: McIntosh, Andrew M
name: Green, Robert C
name: Schork, Andrew J
name: Nalls, Michael A
name: Wolfers, Thomas
name: Decarli, Charles
name: Ikeda, Masashi
name: Ames, David
name: Calhoun, Vince D
name: Fernández, Guillén
name: Nyberg, Lars
name: Van Rooij, Daan
name: Toga, Arthur W
name: Pausova, Zdenka
name: Hernández, Maria C Valdés
name: Adams, Hieab H H
name: Lee, Phil H
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2016

description: Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth.