Common genetic variants influence human subcortical brain structures

Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Mallar Chakravarty M., Chen, Qiang, Ching, Christopher R.K., Cuellar-Partida, Gabriel, Den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Olde Loohuis, Loes M, Luciano, Michelle, MacAre, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santianez, Roberto, Rose, Emma J, Salami, Alireza, Samann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, Van Donkelaar, Marjolein. J, Van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina M. H, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien J.G.A.M, Hoehn, David, Kasperaviciute, Dalia, Liewald, David C.M, Lopez, Lorna M, Makkinje, Remco R.R, Matarin, Mar, Naber, Marlies A.M, Reese McKay, D, Needham, Margaret, Nugent. Allison C, Putz, Benno, Royle, Natallie A, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, Van Der Marel, Saskia S.L, Van Hulzen, Kimm J.E, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, Czisch, Michael, De Zubicaray, Greig I, Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fedko, Iryna O, Ferrucci, Luigi, Foroud, Tatiana M, Fox, Peter T, Fukunaga, Masaki, Raphael Gibbs, J, Goring, Harald H.H, Green, Robert C, Guelfi, Sebastian, Hansell, Narelle K, Hartman, Catharina A, Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G, Heslenfeld, Dirk J, Hoekstra, Pieter J, Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jack, Clifford R, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Liu, Xinmin, Longo, Dan L, McMahon, Katie L, Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W, Mostert, Jeanette C, Muhleisen, Thomas W, Nalls, Michael A, Nichols, Thomas E, Nilsson, Lars G, Nothen, Markus M, Ohi, Kazutaka, Olvera, Rene L, Perez-Iglesias, Rocio, Bruce Pike, G, Potkin, Steven G, Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D, Rujescu, Dan, Schnell, Knut, Schofield, Peter R, Smith, Colin, Steen, Vidar M, Sussmann. Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Valdes Hernandez, Maria C, Van 'T Ent, Dennis, Van Der Brug, Marcel, Van Der Wee, Nic J.A, Van Tol, Marie-Jose, Veltman, Dick J, Wassink, Thomas H, Westman, Eric, Zielke, Ronald H, Zonderman, Alan B, Ashbrook, David G, Hager, Reinmar, Lu, Lu, McMahon, Francis J, Morris, Derek W, Williams, Robert W, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Cahn, Wiepke, Calhoun, Vince D, Cavalleri, Gianpiero L, Crespo-Facorro, Benedicto, Dale, Anders M, Davies, Gareth E, Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C, Espeseth, Thomas, Gollub, Randy L, Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, Rene S, Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Muller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W.J.H, Roffman, Joshua L, Sisodiya, Sanjay M, Smoller, Jordan W, Van Bokhoven, Hans, Van Haren, Neeltje E. M, Volzke, Henry, Walter, Henrik, Weiner, Michael W, Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A, Blangero, John, Boomsma, Dorret I, Brouwer, Rachel M, Cannon, Dara M, Cookson, Mark R, De Geus, Eco.J.C, Deary, Ian J, Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E, Francks, Clyde, Glahn, David C, Grabe, Hans J, Gruber, Ole A, Hardy, John, Hashimoto, Ryota, Hulshoff Pol, Hilleke E, Jonsson, Erik G, Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S, Mecocci, Patrizia, McDonald, COlm, McIntosh, Andrew M, Ophoff, Roel A, Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S, Saykin, Andrew J, Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M, Weale, Michael E, Weinberger, Daniel R, Adams, Hieab H.H, Launer, Lenore J, Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L, Becker, James T, Yanek, Lisa, Van Der Lee, Sven J, Ebling, Maritza, Fischl, Bruce, Longstreth, W.T, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N, Van Duijn, Cornelia M, Xue, Luting, Mazoyer, Bernard, Bis, Joshua C, Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M.Arfan, Martin, Nicholas G, Wright, Margaret J, Schumann, Gunter, Franke, Barbara, Thompson, Paul M and Medland, Sarah E (2015) Common genetic variants influence human subcortical brain structures. Nature, 520 7546: 224-229. doi:10.1038/nature14101


Author Hibar, Derrek P
Stein, Jason L
Renteria, Miguel E
Arias-Vasquez, Alejandro
Desrivieres, Sylvane
Jahanshad, Neda
Toro, Roberto
Wittfeld, Katharina
Abramovic, Lucija
Andersson, Micael
Aribisala, Benjamin S
Armstrong, Nicola J
Bernard, Manon
Bohlken, Marc M
Boks, Marco P
Bralten, Janita
Brown, Andrew A
Mallar Chakravarty M.
Chen, Qiang
Ching, Christopher R.K.
Cuellar-Partida, Gabriel
Den Braber, Anouk
Giddaluru, Sudheer
Goldman, Aaron L
Grimm, Oliver
Guadalupe, Tulio
Hass, Johanna
Woldehawariat, Girma
Holmes, Avram J
Hoogman, Martine
Janowitz, Deborah
Jia, Tianye
Kim, Sungeun
Klein, Marieke
Kraemer, Bernd
Lee, Phil H
Olde Loohuis, Loes M
Luciano, Michelle
MacAre, Christine
Mather, Karen A
Mattheisen, Manuel
Milaneschi, Yuri
Nho, Kwangsik
Papmeyer, Martina
Ramasamy, Adaikalavan
Risacher, Shannon L
Roiz-Santianez, Roberto
Rose, Emma J
Salami, Alireza
Samann, Philipp G
Schmaal, Lianne
Schork, Andrew J
Shin, Jean
Strike, Lachlan T
Teumer, Alexander
Van Donkelaar, Marjolein. J
Van Eijk, Kristel R
Walters, Raymond K
Westlye, Lars T
Whelan, Christopher D
Winkler, Anderson M
Zwiers, Marcel P
Alhusaini, Saud
Athanasiu, Lavinia
Ehrlich, Stefan
Hakobjan, Marina M. H
Hartberg, Cecilie B
Haukvik, Unn K
Heister, Angelien J.G.A.M
Hoehn, David
Kasperaviciute, Dalia
Liewald, David C.M
Lopez, Lorna M
Makkinje, Remco R.R
Matarin, Mar
Naber, Marlies A.M
Reese McKay, D
Needham, Margaret
Nugent. Allison C
Putz, Benno
Royle, Natallie A
Shen, Li
Sprooten, Emma
Trabzuni, Daniah
Van Der Marel, Saskia S.L
Van Hulzen, Kimm J.E
Walton, Esther
Wolf, Christiane
Almasy, Laura
Ames, David
Arepalli, Sampath
Assareh, Amelia A
Bastin, Mark E
Brodaty, Henry
Bulayeva, Kazima B
Carless, Melanie A
Cichon, Sven
Corvin, Aiden
Curran, Joanne E
Czisch, Michael
De Zubicaray, Greig I
Dillman, Allissa
Duggirala, Ravi
Dyer, Thomas D
Erk, Susanne
Fedko, Iryna O
Ferrucci, Luigi
Foroud, Tatiana M
Fox, Peter T
Fukunaga, Masaki
Raphael Gibbs, J
Goring, Harald H.H
Green, Robert C
Guelfi, Sebastian
Hansell, Narelle K
Hartman, Catharina A
Hegenscheid, Katrin
Heinz, Andreas
Hernandez, Dena G
Heslenfeld, Dirk J
Hoekstra, Pieter J
Holsboer, Florian
Homuth, Georg
Hottenga, Jouke-Jan
Ikeda, Masashi
Jack, Clifford R
Jenkinson, Mark
Johnson, Robert
Kanai, Ryota
Keil, Maria
Kent, Jack W
Kochunov, Peter
Kwok, John B
Lawrie, Stephen M
Liu, Xinmin
Longo, Dan L
McMahon, Katie L
Meisenzahl, Eva
Melle, Ingrid
Mohnke, Sebastian
Montgomery, Grant W
Mostert, Jeanette C
Muhleisen, Thomas W
Nalls, Michael A
Nichols, Thomas E
Nilsson, Lars G
Nothen, Markus M
Ohi, Kazutaka
Olvera, Rene L
Perez-Iglesias, Rocio
Bruce Pike, G
Potkin, Steven G
Reinvang, Ivar
Reppermund, Simone
Rietschel, Marcella
Romanczuk-Seiferth, Nina
Rosen, Glenn D
Rujescu, Dan
Schnell, Knut
Schofield, Peter R
Smith, Colin
Steen, Vidar M
Sussmann. Jessika E
Thalamuthu, Anbupalam
Toga, Arthur W
Traynor, Bryan J
Troncoso, Juan
Turner, Jessica A
Valdes Hernandez, Maria C
Van 'T Ent, Dennis
Van Der Brug, Marcel
Van Der Wee, Nic J.A
Van Tol, Marie-Jose
Veltman, Dick J
Wassink, Thomas H
Westman, Eric
Zielke, Ronald H
Zonderman, Alan B
Ashbrook, David G
Hager, Reinmar
Lu, Lu
McMahon, Francis J
Morris, Derek W
Williams, Robert W
Brunner, Han G
Buckner, Randy L
Buitelaar, Jan K
Cahn, Wiepke
Calhoun, Vince D
Cavalleri, Gianpiero L
Crespo-Facorro, Benedicto
Dale, Anders M
Davies, Gareth E
Delanty, Norman
Depondt, Chantal
Djurovic, Srdjan
Drevets, Wayne C
Espeseth, Thomas
Gollub, Randy L
Ho, Beng-Choon
Hoffmann, Wolfgang
Hosten, Norbert
Kahn, Rene S
Le Hellard, Stephanie
Meyer-Lindenberg, Andreas
Muller-Myhsok, Bertram
Nauck, Matthias
Nyberg, Lars
Pandolfo, Massimo
Penninx, Brenda W.J.H
Roffman, Joshua L
Sisodiya, Sanjay M
Smoller, Jordan W
Van Bokhoven, Hans
Van Haren, Neeltje E. M
Volzke, Henry
Walter, Henrik
Weiner, Michael W
Wen, Wei
White, Tonya
Agartz, Ingrid
Andreassen, Ole A
Blangero, John
Boomsma, Dorret I
Brouwer, Rachel M
Cannon, Dara M
Cookson, Mark R
De Geus, Eco.J.C
Deary, Ian J
Donohoe, Gary
Fernandez, Guillen
Fisher, Simon E
Francks, Clyde
Glahn, David C
Grabe, Hans J
Gruber, Ole A
Hardy, John
Hashimoto, Ryota
Hulshoff Pol, Hilleke E
Jonsson, Erik G
Kloszewska, Iwona
Lovestone, Simon
Mattay, Venkata S
Mecocci, Patrizia
McDonald, COlm
McIntosh, Andrew M
Ophoff, Roel A
Paus, Tomas
Pausova, Zdenka
Ryten, Mina
Sachdev, Perminder S
Saykin, Andrew J
Simmons, Andy
Singleton, Andrew
Soininen, Hilkka
Wardlaw, Joanna M
Weale, Michael E
Weinberger, Daniel R
Adams, Hieab H.H
Launer, Lenore J
Seiler, Stephan
Schmidt, Reinhold
Chauhan, Ganesh
Satizabal, Claudia L
Becker, James T
Yanek, Lisa
Van Der Lee, Sven J
Ebling, Maritza
Fischl, Bruce
Longstreth, W.T
Greve, Douglas
Schmidt, Helena
Nyquist, Paul
Vinke, Louis N
Van Duijn, Cornelia M
Xue, Luting
Mazoyer, Bernard
Bis, Joshua C
Gudnason, Vilmundur
Seshadri, Sudha
Ikram, M.Arfan
Martin, Nicholas G
Wright, Margaret J
Schumann, Gunter
Franke, Barbara
Thompson, Paul M
Medland, Sarah E
Title Common genetic variants influence human subcortical brain structures
Journal name Nature   Check publisher's open access policy
ISSN 1476-4687
0028-0836
Publication date 2015-04-09
Year available 2015
Sub-type Article (original research)
DOI 10.1038/nature14101
Open Access Status Not Open Access
Volume 520
Issue 7546
Start page 224
End page 229
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2016
Language eng
Formatted abstract
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.
Keyword Behavioural genetics
Genetics of the nervous system
Biosensors
Biophysics
Biochemistry
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2016 Collection
School of Psychology Publications
Centre for Advanced Imaging Publications
 
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