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Novel genetic loci underlying human intracranial volume identified through genome-wide association
- Adams, Hieab HH;
- Hibar, Derrek P;
- Chouraki, Vincent;
- Stein, Jason L;
- Nyquist, Paul A;
- Rentería, Miguel E;
- Trompet, Stella;
- Arias-Vasquez, Alejandro;
- Seshadri, Sudha;
- Desrivières, Sylvane;
- Beecham, Ashley H;
- Jahanshad, Neda;
- Wittfeld, Katharina;
- Van der Lee, Sven J;
- Abramovic, Lucija;
- Alhusaini, Saud;
- Amin, Najaf;
- Andersson, Micael;
- Arfanakis, Konstantinos;
- Aribisala, Benjamin S;
- Armstrong, Nicola J;
- Athanasiu, Lavinia;
- Axelsson, Tomas;
- Beiser, Alexa;
- Bernard, Manon;
- Bis, Joshua C;
- Blanken, Laura ME;
- Blanton, Susan H;
- Bohlken, Marc M;
- Boks, Marco P;
- Bralten, Janita;
- Brickman, Adam M;
- Carmichael, Owen;
- Chakravarty, M Mallar;
- Chauhan, Ganesh;
- Chen, Qiang;
- Ching, Christopher RK;
- Cuellar-Partida, Gabriel;
- Braber, Anouk Den;
- Doan, Nhat Trung;
- Ehrlich, Stefan;
- Filippi, Irina;
- Ge, Tian;
- Giddaluru, Sudheer;
- Goldman, Aaron L;
- Gottesman, Rebecca F;
- Greven, Corina U;
- Grimm, Oliver;
- Griswold, Michael E;
- Guadalupe, Tulio;
- Hass, Johanna;
- Haukvik, Unn K;
- Hilal, Saima;
- Hofer, Edith;
- Hoehn, David;
- Holmes, Avram J;
- Hoogman, Martine;
- Janowitz, Deborah;
- Jia, Tianye;
- Kasperaviciute, Dalia;
- Kim, Sungeun;
- Klein, Marieke;
- Kraemer, Bernd;
- Lee, Phil H;
- Liao, Jiemin;
- Liewald, David CM;
- Lopez, Lorna M;
- Luciano, Michelle;
- Macare, Christine;
- Marquand, Andre;
- Matarin, Mar;
- Mather, Karen A;
- Mattheisen, Manuel;
- Mazoyer, Bernard;
- McKay, David R;
- McWhirter, Rebekah;
- Milaneschi, Yuri;
- Mirza-Schreiber, Nazanin;
- Muetzel, Ryan L;
- Maniega, Susana Muñoz;
- Nho, Kwangsik;
- Nugent, Allison C;
- Loohuis, Loes M Olde;
- Oosterlaan, Jaap;
- Papmeyer, Martina;
- Pappa, Irene;
- Pirpamer, Lukas;
- Pudas, Sara;
- Pütz, Benno;
- Rajan, Kumar B;
- Ramasamy, Adaikalavan;
- Richards, Jennifer S;
- Risacher, Shannon L;
- Roiz-Santiañez, Roberto;
- Rommelse, Nanda;
- Rose, Emma J;
- Royle, Natalie A;
- Rundek, Tatjana;
- Sämann, Philipp G;
- Satizabal, Claudia L;
- Schmaal, Lianne;
- Schork, Andrew J;
- Shen, Li;
- Shin, Jean;
- Shumskaya, Elena;
- Smith, Albert V;
- Sprooten, Emma;
- Strike, Lachlan T;
- Teumer, Alexander;
- Thomson, Russell;
- Tordesillas-Gutierrez, Diana;
- Toro, Roberto;
- Trabzuni, Daniah;
- Vaidya, Dhananjay;
- Van der Grond, Jeroen;
- Van der Meer, Dennis;
- Van Donkelaar, Marjolein MJ;
- Van Eijk, Kristel R;
- Van Erp, Theo GM;
- Van Rooij, Daan;
- Walton, Esther;
- Westlye, Lars T;
- Whelan, Christopher D;
- Windham, Beverly G;
- Winkler, Anderson M;
- Woldehawariat, Girma;
- Wolf, Christiane;
- Wolfers, Thomas;
- Xu, Bing;
- Yanek, Lisa R;
- Yang, Jingyun;
- Zijdenbos, Alex;
- Zwiers, Marcel P;
- Agartz, Ingrid;
- Aggarwal, Neelum T;
- Almasy, Laura;
- Ames, David;
- Amouyel, Philippe;
- Andreassen, Ole A;
- Arepalli, Sampath;
- Assareh, Amelia A;
- Barral, Sandra;
- Bastin, Mark E;
- Becker, Diane M;
- Becker, James T;
- Bennett, David A;
- Blangero, John;
- van Bokhoven, Hans;
- Boomsma, Dorret I;
- Brodaty, Henry;
- Brouwer, Rachel M;
- Brunner, Han G;
- Buckner, Randy L;
- Buitelaar, Jan K;
- Bulayeva, Kazima B;
- Cahn, Wiepke;
- Calhoun, Vince D;
- Cannon, Dara M;
- Cavalleri, Gianpiero L;
- Chen, Christopher;
- Cheng, Ching-Yu;
- Cichon, Sven;
- Cookson, Mark R;
- Corvin, Aiden;
- Crespo-Facorro, Benedicto;
- Curran, Joanne E;
- Czisch, Michael;
- Dale, Anders M;
- Davies, Gareth E;
- De Geus, Eco JC;
- De Jager, Philip L;
- de Zubicaray, Greig I;
- Delanty, Norman;
- Depondt, Chantal;
- DeStefano, Anita L;
- Dillman, Allissa;
- Djurovic, Srdjan;
- Donohoe, Gary;
- Drevets, Wayne C;
- Duggirala, Ravi;
- Dyer, Thomas D;
- Erk, Susanne;
- Espeseth, Thomas;
- Evans, Denis A;
- Fedko, Iryna O;
- Fernández, Guillén;
- Ferrucci, Luigi;
- Fisher, Simon E;
- Fleischman, Debra A;
- Ford, Ian;
- Foroud, Tatiana M;
- Fox, Peter T;
- Francks, Clyde;
- Fukunaga, Masaki;
- Gibbs, J Raphael;
- Glahn, David C;
- Gollub, Randy L;
- Göring, Harald HH;
- Grabe, Hans J;
- Green, Robert C;
- Gruber, Oliver;
- Gudnason, Vilmundur;
- Guelfi, Sebastian;
- Hansell, Narelle K;
- Hardy, John;
- Hartman, Catharina A;
- Hashimoto, Ryota;
- Hegenscheid, Katrin;
- Heinz, Andreas;
- Le Hellard, Stephanie;
- Hernandez, Dena G;
- Heslenfeld, Dirk J;
- Ho, Beng-Choon;
- Hoekstra, Pieter J;
- Hoffmann, Wolfgang;
- Hofman, Albert;
- Holsboer, Florian;
- Homuth, Georg;
- Hosten, Norbert;
- Hottenga, Jouke-Jan;
- Hulshoff Pol, Hilleke E;
- Ikeda, Masashi;
- Ikram, M Kamran;
- Jack, Clifford R;
- Jenkinson, Mark;
- Johnson, Robert;
- Jönsson, Erik G;
- Jukema, J Wouter;
- Kahn, René S;
- Kanai, Ryota;
- Kloszewska, Iwona;
- Knopman, David S;
- Kochunov, Peter;
- Kwok, John B;
- Lawrie, Stephen M;
- Lemaître, Hervé;
- Liu, Xinmin;
- Longo, Dan L;
- Longstreth, WT;
- Lopez, Oscar L;
- Lovestone, Simon;
- Martinez, Oliver;
- Martinot, Jean-Luc;
- Mattay, Venkata S;
- McDonald, Colm;
- McIntosh, Andrew M;
- McMahon, Katie L;
- McMahon, Francis J;
- Mecocci, Patrizia;
- Melle, Ingrid;
- Meyer-Lindenberg, Andreas;
- Mohnke, Sebastian;
- Montgomery, Grant W;
- Morris, Derek W;
- Mosley, Thomas H;
- Mühleisen, Thomas W;
- Müller-Myhsok, Bertram;
- Nalls, Michael A;
- Nauck, Matthias;
- Nichols, Thomas E;
- Niessen, Wiro J;
- Nöthen, Markus M;
- Nyberg, Lars;
- Ohi, Kazutaka;
- Olvera, Rene L;
- Ophoff, Roel A;
- Pandolfo, Massimo;
- Paus, Tomas;
- Pausova, Zdenka;
- Penninx, Brenda WJH;
- Pike, G Bruce;
- Potkin, Steven G;
- Psaty, Bruce M;
- Reppermund, Simone;
- Rietschel, Marcella;
- Roffman, Joshua L;
- Romanczuk-Seiferth, Nina;
- Rotter, Jerome I;
- Ryten, Mina;
- Sacco, Ralph L;
- Sachdev, Perminder S;
- Saykin, Andrew J;
- Schmidt, Reinhold;
- Schofield, Peter R;
- Sigurdsson, Sigurdur;
- Simmons, Andy;
- Singleton, Andrew;
- Sisodiya, Sanjay M;
- Smith, Colin;
- Smoller, Jordan W;
- Soininen, Hilkka;
- Srikanth, Velandai;
- Steen, Vidar M;
- Stott, David J;
- Sussmann, Jessika E;
- Thalamuthu, Anbupalam;
- Tiemeier, Henning;
- Toga, Arthur W;
- Traynor, Bryan J;
- Troncoso, Juan;
- Turner, Jessica A;
- Tzourio, Christophe;
- Uitterlinden, Andre G;
- Hernández, Maria C Valdés;
- Van der Brug, Marcel;
- Van der Lugt, Aad;
- Van der Wee, Nic JA;
- Van Duijn, Cornelia M;
- Van Haren, Neeltje EM;
- Van ′t Ent, Dennis;
- Van Tol, Marie-Jose;
- Vardarajan, Badri N;
- Veltman, Dick J;
- Vernooij, Meike W;
- Völzke, Henry;
- Walter, Henrik;
- Wardlaw, Joanna M;
- Wassink, Thomas H;
- Weale, Michael E;
- Weinberger, Daniel R;
- Weiner, Michael W;
- Wen, Wei;
- Westman, Eric;
- White, Tonya;
- Wong, Tien Y;
- Wright, Clinton B;
- Zielke, H Ronald;
- Zonderman, Alan B;
- Deary, Ian J;
- DeCarli, Charles;
- Schmidt, Helena;
- Martin, Nicholas G;
- De Craen, Anton JM;
- Wright, Margaret J;
- Launer, Lenore J;
- Schumann, Gunter;
- Fornage, Myriam;
- Franke, Barbara;
- Debette, Stéphanie;
- Medland, Sarah E;
- Ikram, M Arfan;
- Thompson, Paul M
- et al.
Published Web Location
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112/No data is associated with this publication.
Abstract
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 previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were 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 indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.
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