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The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

Titel:	The genetic architecture of the human cerebral cortex
Autor/in / Beteiligte Person:	Grasby, Katrina L. ; Jahanshad, Neda ; Painter, Jodie N. ; Colodro-Conde, Lucía ; Bralten, Janita ; Hibar, Derrek P. ; Lind, Penelope A. ; Pizzagalli, Fabrizio ; Ching, Christopher R.K. ; McMahon, Mary Agnes B. ; Shatokhina, Natalia ; Zsembik, Leo C.P. ; Thomopoulos, Sophia I. ; Zhu, Alyssa H. ; Strike, Lachlan T. ; Agartz, Ingrid ; Alhusaini, Saud ; Almeida, Marcio A.A. ; Alnæs, Dag ; Amlien, Inge K. ; Andersson, Micael ; Ard, Tyler ; Armstrong, Nicola J. ; Ashley-Koch, Allison ; Atkins, Joshua R. ; Bernard, Manon ; Brouwer, Rachel M. ; Buimer, Elizabeth E.L. ; Bülow, Robin ; Bürger, Christian ; Cannon, Dara M. ; Chakravarty, Mallar ; Chen, Qiang ; Cheung, Joshua W. ; Couvy-Duchesne, Baptiste ; Dale, Anders M. ; Dalvie, Shareefa ; de Araujo, Tânia K. ; de Zubicaray, Greig I. ; de Zwarte, Sonja M.C. ; den Braber, Anouk ; Doan, Nhat Trung ; Dohm, Katharina ; Ehrlich, Stefan ; Engelbrecht, Hannah Ruth ; Erk, Susanne ; Fan, Chun Chieh ; Fedko, Iryna O. ; Foley, Sonya F. ; Ford, Judith M. ; Fukunaga, Masaki ; Garrett, Melanie E. ; Ge, Tian ; Giddaluru, Sudheer ; Goldman, Aaron L. ; Green, Melissa J. ; Groenewold, Nynke A. ; Grotegerd, Dominik ; Gurholt, Tiril P. ; Gutman, Boris A. ; Hansell, Narelle K. ; Harris, Mathew A. ; Harrison, Marc B. ; Haswell, Courtney C. ; Hauser, Michael ; Herms, Stefan ; Heslenfeld, Dirk J. ; Ho, New Fei ; Hoehn, David ; Hoffmann, Per ; Holleran, Laurena ; Hoogman, Martine ; Hottenga, Jouke Jan ; Ikeda, Masashi ; Janowitz, Deborah ; Jansen, Iris E. ; Jia, Tianye ; Jockwitz, Christiane ; Kanai, Ryota ; Karama, Sherif ; Kasperaviciute, Dalia ; Kaufmann, Tobias ; Kelly, Sinead ; Kikuchi, Masataka ; Klein, Marieke ; Knapp, Michael ; Knodt, Annchen R. ; Krämer, Bernd ; Lam, Max ; Lancaster, Thomas M. ; Lee, Phil H. ; Lett, Tristram A. ; Lewis, Lindsay B. ; Lopes-Cendes, Iscia ; Luciano, Michelle ; Macciardi, Fabio ; Marquand, Andre F. ; Mathias, Samuel R. ; Melzer, Tracy R. ; Milaneschi, Yuri ; Mirza-Schreiber, Nazanin ; Moreira, Jose C.V. ; Mühleisen, Thomas W. ; Müller-Myhsok, Bertram ; Najt, Pablo ; Nakahara, Soichiro ; Nho, Kwangsik ; Olde Loohuis, Loes M. ; Orfanos, Dimitri Papadopoulos ; Pearson, John F. ; Pitcher, Toni L. ; Pütz, Benno ; Quidé, Yann ; Ragothaman, Anjanibhargavi ; Rashid, Faisal M. ; Reay, William R. ; Redlich, Ronny ; Reinbold, Céline S. ; Repple, Jonathan ; Richard, Geneviève ; Riedel, Brandalyn C. ; Risacher, Shannon L. ; Rocha, Cristiane S. ; Mota, Nina R. ; Salminen, Lauren ; Saremi, Arvin ; Saykin, Andrew J. ; Schlag, Fenja ; Schmaal, Lianne ; Schofield, Peter R. ; Secolin, Rodrigo ; Shapland, Chin Yang ; Shen, Li ; Shin, Jean ; Shumskaya, Elena ; Sønderby, Ida E. ; Sprooten, Emma ; Tansey, Katherine E. ; Teumer, Alexander ; Thalamuthu, Anbupalam ; Tordesillas-Gutiérrez, Diana ; Turner, Jessica A. ; Uhlmann, Anne ; Vallerga, Costanza L. ; van der Meer, Dennis ; van Donkelaar, Marjolein M.J. ; van Eijk, Liza ; van Erp, Theo G.M. ; van Haren, Neeltje E.M. ; van Rooij, Daan ; van Tol, Marie José ; Veldink, Jan H. ; Verhoef, Ellen ; Walton, Esther ; Wang, Mingyuan ; Wang, Yunpeng ; Wardlaw, Joanna M. ; Wen, Wei ; Westlye, Lars T. ; Whelan, Christopher D. ; Witt, Stephanie H. ; Wittfeld, Katharina ; Wolf, Christiane ; Wolfers, Thomas ; Wu, Jing Qin ; Yasuda, Clarissa L. ; Zaremba, Dario ; Zhang, Zuo ; Zwiers, Marcel P. ; Artiges, Eric ; Assareh, Amelia A. ; Ayesa-Arriola, Rosa ; Belger, Aysenil ; Brandt, Christine L. ; Brown, Gregory G. ; Cichon, Sven ; Curran, Joanne E. ; Davies, Gareth E. ; Degenhardt, Franziska ; Dennis, Michelle F. ; Dietsche, Bruno ; Djurovic, Srdjan ; Doherty, Colin P. ; Espiritu, Ryan ; Garijo, Daniel ; Gil, Yolanda ; Gowland, Penny A. ; Green, Robert C. ; Häusler, Alexander N. ; Heindel, Walter ; Ho, Beng Choon ; Hoffmann, Wolfgang U. ; Holsboer, Florian ; Homuth, Georg ; Hosten, Norbert ; Jack, Clifford R. ; Jang, Mi Hyun ; Jansen, Andreas ; Kimbrel, Nathan A. ; Kolskår, Knut ; Koops, Sanne ; Krug, Axel ; Lim, Kelvin O. ; Luykx, Jurjen J. ; Mathalon, Daniel H. ; Mather, Karen A. ; Mattay, Venkata S. ; Matthews, Sarah ; van Son, Jaqueline Mayoral ; McEwen, Sarah C. ; Melle, Ingrid ; Morris, Derek W. ; Mueller, Bryon A. ; Nauck, Matthias ; Nordvik, Jan E. ; Nöthen, Markus M. ; O'Leary, Daniel S. ; Opel, Nils ; Martinot, Marie Laure Paillère ; Bruce Pike, G. ; Preda, Adrian ; Quinlan, Erin B. ; Rasser, Paul E. ; Ratnakar, Varun ; Reppermund, Simone ; Steen, Vidar M. ; Tooney, Paul A. ; Torres, Fábio R. ; Veltman, Dick J. ; Voyvodic, James T. ; Whelan, Robert ; White, Tonya ; Yamamori, Hidenaga ; Adams, Hieab H.H. ; Bis, Joshua C. ; Debette, Stephanie ; Decarli, Charles ; Fornage, Myriam ; Gudnason, Vilmundur ; Hofer, Edith ; Arfan Ikram, M. ; Launer, Lenore ; Longstreth, W. T. ; Lopez, Oscar L. ; Fisher, Simon E. ; Martin, Nicholas G. ; McMahon, Katie L. ; Wright, Margaret J. ; Thompson, Paul M. ; Medland, Sarah E.
Link:	https://eprints.qut.edu.au/200016/1/58404915.pdf https://eprints.qut.edu.au/200016/ https://doi.org/10.1126/science.aay6690
Zeitschrift:	Science, 2020
Veröffentlichung:	American Association for the Advancement of Science, 2020
Medientyp:	academicJournal
DOI:	10.1126/science.aay6690
Sonstiges:	Nachgewiesen in: BASE Sprachen: unknown Collection: Queensland University of Technology: QUT ePrints Document Type: article in journal/newspaper File Description: application/pdf Language: unknown Relation: https://eprints.qut.edu.au/200016/1/58404915.pdf; Grasby, Katrina L., Jahanshad, Neda, Painter, Jodie N., Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P., Lind, Penelope A., Pizzagalli, Fabrizio, Ching, Christopher R.K., McMahon, Mary Agnes B., Shatokhina, Natalia, Zsembik, Leo C.P., Thomopoulos, Sophia I., Zhu, Alyssa H., Strike, Lachlan T., Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio A.A., Alnæs, Dag, Amlien, Inge K., Andersson, Micael, Ard, Tyler, Armstrong, Nicola J., Ashley-Koch, Allison, Atkins, Joshua R., Bernard, Manon, Brouwer, Rachel M., Buimer, Elizabeth E.L., Bülow, Robin, Bürger, Christian, Cannon, Dara M., Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W., Couvy-Duchesne, Baptiste, Dale, Anders M., Dalvie, Shareefa, de Araujo, Tânia K., de Zubicaray, Greig I., de Zwarte, Sonja M.C., den Braber, Anouk, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O., Foley, Sonya F., Ford, Judith M., Fukunaga, Masaki, Garrett, Melanie E., Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L., Green, Melissa J., Groenewold, Nynke A., Grotegerd, Dominik, Gurholt, Tiril P., Gutman, Boris A., Hansell, Narelle K., Harris, Mathew A., Harrison, Marc B., Haswell, Courtney C., Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J., Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E., Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Karama, Sherif, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R., Krämer, Bernd, Lam, Max, Lancaster, Thomas M., Lee, Phil H., Lett, Tristram A., Lewis, Lindsay B., Lopes-Cendes, Iscia, Luciano, Michelle, Macciardi, Fabio, Marquand, Andre F., Mathias, Samuel R., Melzer, Tracy R., Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Moreira, Jose C.V., Mühleisen, Thomas W., Müller-Myhsok, Bertram, Najt, Pablo, Nakahara, Soichiro, Nho, Kwangsik, Olde Loohuis, Loes M., Orfanos, Dimitri Papadopoulos, Pearson, John F., Pitcher, Toni L., Pütz, Benno, Quidé, Yann, Ragothaman, Anjanibhargavi, Rashid, Faisal M., Reay, William R., Redlich, Ronny, Reinbold, Céline S., Repple, Jonathan, Richard, Geneviève, Riedel, Brandalyn C., Risacher, Shannon L., Rocha, Cristiane S., Mota, Nina R., Salminen, Lauren, Saremi, Arvin, Saykin, Andrew J., Schlag, Fenja, Schmaal, Lianne, Schofield, Peter R., Secolin, Rodrigo, Shapland, Chin Yang, Shen, Li, Shin, Jean, Shumskaya, Elena, Sønderby, Ida E., Sprooten, Emma, Tansey, Katherine E., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Uhlmann, Anne, Vallerga, Costanza L., van der Meer, Dennis, van Donkelaar, Marjolein M.J., van Eijk, Liza, van Erp, Theo G.M., van Haren, Neeltje E.M., van Rooij, Daan, van Tol, Marie José, Veldink, Jan H., Verhoef, Ellen, Walton, Esther, Wang, Mingyuan, Wang, Yunpeng, Wardlaw, Joanna M., Wen, Wei, Westlye, Lars T., Whelan, Christopher D., Witt, Stephanie H., Wittfeld, Katharina, Wolf, Christiane, Wolfers, Thomas, Wu, Jing Qin, Yasuda, Clarissa L., Zaremba, Dario, Zhang, Zuo, Zwiers, Marcel P., Artiges, Eric, Assareh, Amelia A., Ayesa-Arriola, Rosa, Belger, Aysenil, Brandt, Christine L., Brown, Gregory G., Cichon, Sven, Curran, Joanne E., Davies, Gareth E., Degenhardt, Franziska, Dennis, Michelle F., Dietsche, Bruno, Djurovic, Srdjan, Doherty, Colin P., Espiritu, Ryan, Garijo, Daniel, Gil, Yolanda, Gowland, Penny A., Green, Robert C., Häusler, Alexander N., Heindel, Walter, Ho, Beng Choon, Hoffmann, Wolfgang U., Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Jack, Clifford R., Jang, Mi Hyun, Jansen, Andreas, Kimbrel, Nathan A., Kolskår, Knut, Koops, Sanne, Krug, Axel, Lim, Kelvin O., Luykx, Jurjen J., Mathalon, Daniel H., Mather, Karen A., Mattay, Venkata S., Matthews, Sarah, van Son, Jaqueline Mayoral, McEwen, Sarah C., Melle, Ingrid, Morris, Derek W., Mueller, Bryon A., Nauck, Matthias, Nordvik, Jan E., Nöthen, Markus M., O'Leary, Daniel S., Opel, Nils, Martinot, Marie Laure Paillère, Bruce Pike, G., Preda, Adrian, Quinlan, Erin B., Rasser, Paul E., Ratnakar, Varun, Reppermund, Simone, Steen, Vidar M., Tooney, Paul A., Torres, Fábio R., Veltman, Dick J., Voyvodic, James T., Whelan, Robert, White, Tonya, Yamamori, Hidenaga, Adams, Hieab H.H., Bis, Joshua C., Debette, Stephanie, Decarli, Charles, Fornage, Myriam, Gudnason, Vilmundur, Hofer, Edith, Arfan Ikram, M., Launer, Lenore, Longstreth, W. T., Lopez, Oscar L., Fisher, Simon E., Martin, Nicholas G., McMahon, Katie L., Wright, Margaret J., Thompson, Paul M., & Medland, Sarah E. (2020) The genetic architecture of the human cerebral cortex. Science, 367(6484), Article number: eaay6690.; https://eprints.qut.edu.au/200016/; Centre for Biomedical Technologies; Faculty of Health; Institute of Health and Biomedical Innovation; Faculty of Engineering; School of Biomedical Sciences Rights: free_to_read ; http://creativecommons.org/licenses/by-nc/4.0/ ; 2020 The Authors ; This work is covered by copyright. Unless the document is being made available under a Creative Commons Licence, you must assume that re-use is limited to personal use and that permission from the copyright owner must be obtained for all other uses. If the document is available under a Creative Commons License (or other specified license) then refer to the Licence for details of permitted re-use. It is a condition of access that users recognise and abide by the legal requirements associated with these rights. If you believe that this work infringes copyright please provide details by email to qut.copyright@qut.edu.au

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The genetic architecture of the human cerebral cortex