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Novel genetic loci underlying human intracranial volume identified through genome-wide association

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ICV-GWAS-NN-acceptedAug31-2016embargoed.pdfAccepted version1.22 MBAdobe PDFView/Open
Title: Novel genetic loci underlying human intracranial volume identified through genome-wide association
Authors: Adams, HH
Hibar, DP
Chouraki, V
Stein, JL
Nyquist, PA
Rentería, ME
Trompet, S
Arias-Vasquez, A
Seshadri, S
Desrivières, S
Beecham, AH
Erk, S
Espeseth, T
Evans, DA
Fedko, IO
Fernández, G
Ferrucci, L
Fisher, SE
Fleischman, DA
Ford, I
Aribisala, BS
Schmaal, L
Foroud, TM
Fox, PT
Francks, C
Fukunaga, M
Gibbs, JR
Glahn, DC
Gollub, RL
Göring, HH
Grabe, HJ
Green, RC
Schork, AJ
Armstrong, NJ
Gruber, O
Gudnason, V
Guelfi, S
Hansell, NK
Hardy, J
Hartman, CA
Hashimoto, R
Hegenscheid, K
Heinz, A
Shen, L
Le Hellard, S
Athanasiu, L
Hernandez, DG
Heslenfeld, DJ
Ho, BC
Hoekstra, PJ
Hoffmann, W
Hofman, A
Holsboer, F
Homuth, G
Shin, J
Hosten, N
Hottenga, JJ
Axelsson, T
Pol, HE
Ikeda, M
Ikram, MK
Jr, CR
Jenkinson, M
Johnson, R
Jönsson, EG
Shumskaya, E
Jukema, JW
Kahn, RS
Kanai, R
Beiser, A
Kloszewska, I
Knopman, DS
Kochunov, P
Kwok, JB
Lawrie, SM
Lemaître, H
Smith, AV
Liu, X
Longo, DL
Jr, WT
Lopez, OL
Bernard, M
Lovestone, S
Martinez, O
Martinot, JL
Mattay, VS
McDonald, C
Sprooten, E
McIntosh, AM
McMahon, KL
McMahon, FJ
Mecocci, P
Melle, I
Bis, JC
Meyer-Lindenberg, A
Mohnke, S
Montgomery, GW
Morris, DW
Strike, LT
Mosley, TH
Mühleisen, TW
Müller-Myhsok, B
Nalls, MA
Nauck, M
Nichols, TE
Blanken, LM
Niessen, WJ
Nöthen, MM
Nyberg, L
Teumer, A
Ohi, K
Olvera, RL
Ophoff, RA
Pandolfo, M
Paus, T
Pausova, Z
Penninx, BW
Blanton, SH
Pike, GB
Potkin, SG
Thomson, R
Psaty, BM
Reppermund, S
Rietschel, M
Roffman, JL
Romanczuk-Seiferth, N
Rotter, JI
Ryten, M
Sacco, RL
Bohlken, MM
Sachdev, PS
Jahanshad, N
Saykin, AJ
Schmidt, R
Schofield, PR
Sigurdsson, S
Simmons, A
Singleton, A
Sisodiya, SM
Smith, C
Smoller, JW
Boks, MP
Tordesillas-Gutierrez, D
Soininen, H
Srikanth, V
Steen, VM
Stott, DJ
Sussmann, JE
Thalamuthu, A
Tiemeier, H
Toga, AW
Traynor, BJ
Troncoso, J
Toro, R
Bralten, J
Turner, JA
Tzourio, C
Uitterlinden, AG
Hernández, MC
Van der Brug, M
Van der Lugt, A
Van der Wee, NJ
Van Duijn, CM
Van Haren, NE
Trabzuni, D
Van T Ent, D
Brickman, AM
Van Tol, MJ
Vardarajan, BN
Veltman, DJ
Vernooij, MW
Völzke, H
Walter, H
Wardlaw, JM
Wassink, TH
Vaidya, D
Weale, ME
Weinberger, DR
Carmichael, O
Weiner, MW
Wen, W
Westman, E
White, T
Wong, TY
Wright, CB
Zielke, HR
Van der Grond, J
Zonderman, AB
Deary, IJ
DeCarli, C
Chakravarty, MM
Schmidt, H
Martin, NG
De Craen, AJ
Wright, MJ
Launer, LJ
Schumann, G
Van der Meer, D
Fornage, M
Franke, B
Debette, S
Medland, SE
Chauhan, G
Ikram, MA
Thompson, PM
Chen, Q
Ching, CR
Cuellar-Partida, G
Van Donkelaar, MM
Braber, AD
Doan, NT
Ehrlich, S
Filippi, I
Ge, T
Giddaluru, S
Goldman, AL
Gottesman, RF
Greven, CU
Grimm, O
Van Eijk, KR
Griswold, ME
Guadalupe, T
Hass, J
Haukvik, UK
Hilal, S
Hofer, E
Hoehn, D
Holmes, AJ
Hoogman, M
Janowitz, D
Van Erp, TG
Jia, T
Kasperaviciute, D
Kim, S
Klein, M
Kraemer, B
Lee, PH
Liao, J
Liewald, DC
Lopez, LM
Luciano, M
Van Rooij, D
Macare, C
Marquand, A
Matarin, M
Mather, KA
Mattheisen, M
Mazoyer, B
McKay, DR
McWhirter, R
Milaneschi, Y
Mirza-Schreiber, N
Wittfeld, K
Muetzel, RL
Maniega, SM
Nho, K
Nugent, AC
Loohuis, LM
Oosterlaan, J
Papmeyer, M
Pappa, I
Pirpamer, L
Pudas, S
Walton, E
Pütz, B
Rajan, KB
Ramasamy, A
Richards, JS
Risacher, SL
Roiz-Santiañez, R
Rommelse, N
Rose, EJ
Royle, NA
Rundek, T
Westlye, LT
Sämann, PG
Satizabal, CL
Whelan, CD
Windham, BG
Winkler, AM
Woldehawariat, G
Wolf, C
Wolfers, T
Xu, B
Yanek, LR
Van der Lee, SJ
Yang, J
Zijdenbos, A
Zwiers, MP
Agartz, I
Aggarwal, NT
Almasy, L
Ames, D
Amouyel, P
Andreassen, OA
Arepalli, S
Abramovic, L
Assareh, AA
Barral, S
Bastin, ME
Becker, DM
Becker, JT
Bennett, DA
Blangero, J
Van Bokhoven, H
Boomsma, DI
Brodaty, H
Alhusaini, S
Brouwer, RM
Brunner, HG
Buckner, RL
Buitelaar, JK
Bulayeva, KB
Cahn, W
Calhoun, VD
Cannon, DM
Cavalleri, GL
Chen, C
Amin, N
Cheng, CY
Cichon, S
Cookson, MR
Corvin, A
Crespo-Facorro, B
Curran, JE
Czisch, M
Dale, AM
Davies, GE
De Geus, EJ
Andersson, M
De Jager, PL
De Zubicaray, GI
Delanty, N
Depondt, C
DeStefano, AL
Dillman, A
Djurovic, S
Donohoe, G
Drevets, WC
Duggirala, R
Arfanakis, K
Dyer, TD
Item Type: Journal Article
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.
Issue Date: 3-Oct-2016
Date of Acceptance: 31-Aug-2016
URI: http://hdl.handle.net/10044/1/41669
DOI: https://dx.doi.org/10.1038/nn.4398
ISSN: 1546-1726
Publisher: Nature Publishing Group
Start Page: 1569
End Page: 1582
Journal / Book Title: Nature Neuroscience
Volume: 19
Copyright Statement: © 2016 Nature America, Inc. All rights reserved.
Keywords: Neurology & Neurosurgery
1109 Neurosciences
1702 Cognitive Science
Publication Status: Published
Appears in Collections:Department of Medicine (up to 2019)