Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition
Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent...
Published in: | JAMA Psychiatry |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Article in Journal/Newspaper |
Language: | unknown |
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American Medical Association
2020
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Online Access: | https://eprints.qut.edu.au/135841/ |
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openpolar |
institution |
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Queensland University of Technology: QUT ePrints |
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topic |
imaging Genetics |
spellingShingle |
imaging Genetics Van Der Meer, Dennis Sonderby, Ida E. Kaufmann, Tobias Walters, G. Bragi Abdellaoui, Abdel Ames, David Amunts, Katrin Andersson, Micael Armstrong, Nicola J. Bernard, Manon Blackburn, Nicholas B. Blangero, John Boomsma, Dorret I. Brodaty, Henry Brouwer, Rachel M. Bulow, Robin Cahn, Wiepke Calhoun, Vince D. Caspers, Svenja Cavalleri, Gianpiero L. Ching, Christopher R.K. Cichon, Sven Ciufolini, Simone Corvin, Aiden Crespo-Facorro, Benedicto Curran, Joanne E. Dalvie, Shareefa Dazzan, Paola De Geus, Eco J.C. De Zubicaray, Greig I. De Zwarte, Sonja M.C. Delanty, Norman Den Braber, Anouk Desrivieres, Sylvane Di Forti, Marta Doherty, Joanne L. Donohoe, Gary Ehrlich, Stefan Eising, Else Espeseth, Thomas Fisher, Simon E. Fladby, Tormod Frei, Oleksandr Frouin, Vincent Fukunaga, Masaki Gareau, Thomas Glahn, David C. Grabe, Hans J. Groenewold, Nynke A. Gústafsson, Ómar Haavik, Jan Haberg, Asta K. Hashimoto, Ryota Hehir-Kwa, Jayne Y. Hibar, Derrek P. Hillegers, Manon H.J. Hoffmann, Per Holleran, Laurena Hottenga, Jouke Jan Hulshoff Pol, Hilleke E. Ikeda, Masashi Jacquemont, Sébastien Jahanshad, Neda Jockwitz, Christiane Johansson, Stefan Jönsson, Erik G. Kikuchi, Masataka Knowles, Emma E.M. Kwok, John B. Le Hellard, Stephanie Linden, David E.J. Liu, Jingyu Lundervold, Arvid Lundervold, Astri J. Martin, Nicholas G. Mather, Karen A. Mathias, Samuel R. McMahon, Katie L. McRae, Allan F. Medland, Sarah E. Moberget, Torgeir Moreau, Clara Morris, Derek W. Mühleisen, Thomas W. Murray, Robin M. Nordvik, Jan E. Nyberg, Lars Olde Loohuis, Loes M. Ophoff, Roel A. Owen, Michael J. Paus, Tomas Pausova, Zdenka Peralta, Juan M. Pike, Bruce Prieto, Carlos Quinlan, Erin Burke Reinbold, Céline S. Reis Marques, Tiago Rucker, James J.H. Sachdev, Perminder S. Sando, Sigrid B. Schofield, Peter R. Schork, Andrew J. Schumann, Gunter Shin, Jean Shumskaya, Elena Silva, Ana I. Sisodiya, Sanjay M. Steen, Vidar M. Stein, Dan J. Strike, Lachlan T. Tamnes, Christian K. Teumer, Alexander Thalamuthu, Anbupalam Tordesillas-Gutiérrez, Diana Uhlmann, Anne Úlfarsson, Magnús Van 'T Ent, Dennis Van Den Bree, Marianne B.M. Vassos, Evangelos Wen, Wei Wittfeld, Katharina Wright, Margaret J. Zayats, Tetyana Dale, Anders M. Djurovic, Srdjan Agartz, Ingrid Westlye, Lars T. Stefánsson, Hreinn Stefánsson, Kári Thompson, Paul M. Andreassen, Ole A. Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
topic_facet |
imaging Genetics |
description |
Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance. Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019. Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age 2 , sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort. Results: Of 45756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10 -8 ), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10 -7 ), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10 -5 ). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10 -7 ). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion ... |
format |
Article in Journal/Newspaper |
author |
Van Der Meer, Dennis Sonderby, Ida E. Kaufmann, Tobias Walters, G. Bragi Abdellaoui, Abdel Ames, David Amunts, Katrin Andersson, Micael Armstrong, Nicola J. Bernard, Manon Blackburn, Nicholas B. Blangero, John Boomsma, Dorret I. Brodaty, Henry Brouwer, Rachel M. Bulow, Robin Cahn, Wiepke Calhoun, Vince D. Caspers, Svenja Cavalleri, Gianpiero L. Ching, Christopher R.K. Cichon, Sven Ciufolini, Simone Corvin, Aiden Crespo-Facorro, Benedicto Curran, Joanne E. Dalvie, Shareefa Dazzan, Paola De Geus, Eco J.C. De Zubicaray, Greig I. De Zwarte, Sonja M.C. Delanty, Norman Den Braber, Anouk Desrivieres, Sylvane Di Forti, Marta Doherty, Joanne L. Donohoe, Gary Ehrlich, Stefan Eising, Else Espeseth, Thomas Fisher, Simon E. Fladby, Tormod Frei, Oleksandr Frouin, Vincent Fukunaga, Masaki Gareau, Thomas Glahn, David C. Grabe, Hans J. Groenewold, Nynke A. Gústafsson, Ómar Haavik, Jan Haberg, Asta K. Hashimoto, Ryota Hehir-Kwa, Jayne Y. Hibar, Derrek P. Hillegers, Manon H.J. Hoffmann, Per Holleran, Laurena Hottenga, Jouke Jan Hulshoff Pol, Hilleke E. Ikeda, Masashi Jacquemont, Sébastien Jahanshad, Neda Jockwitz, Christiane Johansson, Stefan Jönsson, Erik G. Kikuchi, Masataka Knowles, Emma E.M. Kwok, John B. Le Hellard, Stephanie Linden, David E.J. Liu, Jingyu Lundervold, Arvid Lundervold, Astri J. Martin, Nicholas G. Mather, Karen A. Mathias, Samuel R. McMahon, Katie L. McRae, Allan F. Medland, Sarah E. Moberget, Torgeir Moreau, Clara Morris, Derek W. Mühleisen, Thomas W. Murray, Robin M. Nordvik, Jan E. Nyberg, Lars Olde Loohuis, Loes M. Ophoff, Roel A. Owen, Michael J. Paus, Tomas Pausova, Zdenka Peralta, Juan M. Pike, Bruce Prieto, Carlos Quinlan, Erin Burke Reinbold, Céline S. Reis Marques, Tiago Rucker, James J.H. Sachdev, Perminder S. Sando, Sigrid B. Schofield, Peter R. Schork, Andrew J. Schumann, Gunter Shin, Jean Shumskaya, Elena Silva, Ana I. Sisodiya, Sanjay M. Steen, Vidar M. Stein, Dan J. Strike, Lachlan T. Tamnes, Christian K. Teumer, Alexander Thalamuthu, Anbupalam Tordesillas-Gutiérrez, Diana Uhlmann, Anne Úlfarsson, Magnús Van 'T Ent, Dennis Van Den Bree, Marianne B.M. Vassos, Evangelos Wen, Wei Wittfeld, Katharina Wright, Margaret J. Zayats, Tetyana Dale, Anders M. Djurovic, Srdjan Agartz, Ingrid Westlye, Lars T. Stefánsson, Hreinn Stefánsson, Kári Thompson, Paul M. Andreassen, Ole A. |
author_facet |
Van Der Meer, Dennis Sonderby, Ida E. Kaufmann, Tobias Walters, G. Bragi Abdellaoui, Abdel Ames, David Amunts, Katrin Andersson, Micael Armstrong, Nicola J. Bernard, Manon Blackburn, Nicholas B. Blangero, John Boomsma, Dorret I. Brodaty, Henry Brouwer, Rachel M. Bulow, Robin Cahn, Wiepke Calhoun, Vince D. Caspers, Svenja Cavalleri, Gianpiero L. Ching, Christopher R.K. Cichon, Sven Ciufolini, Simone Corvin, Aiden Crespo-Facorro, Benedicto Curran, Joanne E. Dalvie, Shareefa Dazzan, Paola De Geus, Eco J.C. De Zubicaray, Greig I. De Zwarte, Sonja M.C. Delanty, Norman Den Braber, Anouk Desrivieres, Sylvane Di Forti, Marta Doherty, Joanne L. Donohoe, Gary Ehrlich, Stefan Eising, Else Espeseth, Thomas Fisher, Simon E. Fladby, Tormod Frei, Oleksandr Frouin, Vincent Fukunaga, Masaki Gareau, Thomas Glahn, David C. Grabe, Hans J. Groenewold, Nynke A. Gústafsson, Ómar Haavik, Jan Haberg, Asta K. Hashimoto, Ryota Hehir-Kwa, Jayne Y. Hibar, Derrek P. Hillegers, Manon H.J. Hoffmann, Per Holleran, Laurena Hottenga, Jouke Jan Hulshoff Pol, Hilleke E. Ikeda, Masashi Jacquemont, Sébastien Jahanshad, Neda Jockwitz, Christiane Johansson, Stefan Jönsson, Erik G. Kikuchi, Masataka Knowles, Emma E.M. Kwok, John B. Le Hellard, Stephanie Linden, David E.J. Liu, Jingyu Lundervold, Arvid Lundervold, Astri J. Martin, Nicholas G. Mather, Karen A. Mathias, Samuel R. McMahon, Katie L. McRae, Allan F. Medland, Sarah E. Moberget, Torgeir Moreau, Clara Morris, Derek W. Mühleisen, Thomas W. Murray, Robin M. Nordvik, Jan E. Nyberg, Lars Olde Loohuis, Loes M. Ophoff, Roel A. Owen, Michael J. Paus, Tomas Pausova, Zdenka Peralta, Juan M. Pike, Bruce Prieto, Carlos Quinlan, Erin Burke Reinbold, Céline S. Reis Marques, Tiago Rucker, James J.H. Sachdev, Perminder S. Sando, Sigrid B. Schofield, Peter R. Schork, Andrew J. Schumann, Gunter Shin, Jean Shumskaya, Elena Silva, Ana I. Sisodiya, Sanjay M. Steen, Vidar M. Stein, Dan J. Strike, Lachlan T. Tamnes, Christian K. Teumer, Alexander Thalamuthu, Anbupalam Tordesillas-Gutiérrez, Diana Uhlmann, Anne Úlfarsson, Magnús Van 'T Ent, Dennis Van Den Bree, Marianne B.M. Vassos, Evangelos Wen, Wei Wittfeld, Katharina Wright, Margaret J. Zayats, Tetyana Dale, Anders M. Djurovic, Srdjan Agartz, Ingrid Westlye, Lars T. Stefánsson, Hreinn Stefánsson, Kári Thompson, Paul M. Andreassen, Ole A. |
author_sort |
Van Der Meer, Dennis |
title |
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
title_short |
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
title_full |
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
title_fullStr |
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
title_full_unstemmed |
Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition |
title_sort |
association of copy number variation of the 15q11.2 bp1-bp2 region with cortical and subcortical morphology and cognition |
publisher |
American Medical Association |
publishDate |
2020 |
url |
https://eprints.qut.edu.au/135841/ |
genre |
Iceland |
genre_facet |
Iceland |
op_source |
JAMA Psychiatry |
op_relation |
https://eprints.qut.edu.au/135841/1/42149615.pdf doi:10.1001/jamapsychiatry.2019.3779 Van Der Meer, Dennis, Sonderby, Ida E., Kaufmann, Tobias, Walters, G. Bragi, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas B., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Bulow, Robin, Cahn, Wiepke, Calhoun, Vince D., Caspers, Svenja, Cavalleri, Gianpiero L., Ching, Christopher R.K., Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dalvie, Shareefa, Dazzan, Paola, De Geus, Eco J.C., De Zubicaray, Greig I., De Zwarte, Sonja M.C., Delanty, Norman, Den Braber, Anouk, Desrivieres, Sylvane, Di Forti, Marta, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans J., Groenewold, Nynke A., Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K., Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Hibar, Derrek P., Hillegers, Manon H.J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke Jan, Hulshoff Pol, Hilleke E., Ikeda, Masashi, Jacquemont, Sébastien, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Kikuchi, Masataka, Knowles, Emma E.M., Kwok, John B., Le Hellard, Stephanie, Linden, David E.J., Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J., Martin, Nicholas G., Mather, Karen A., Mathias, Samuel R., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Moberget, Torgeir, Moreau, Clara, Morris, Derek W., Mühleisen, Thomas W., Murray, Robin M., Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Michael J., Paus, Tomas, Pausova, Zdenka, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Quinlan, Erin Burke, Reinbold, Céline S., Reis Marques, Tiago, Rucker, James J.H., Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Úlfarsson, Magnús, Van 'T Ent, Dennis, Van Den Bree, Marianne B.M., Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J., Zayats, Tetyana, Dale, Anders M., Djurovic, Srdjan, Agartz, Ingrid, Westlye, Lars T., Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul M., & Andreassen, Ole A. (2020) Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition. JAMA Psychiatry, 77(4), pp. 420-430. https://eprints.qut.edu.au/135841/ Centre for Biomedical Technologies; Institute of Health and Biomedical Innovation; Faculty of Engineering |
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free_to_read http://creativecommons.org/licenses/by-nc/4.0/ Consult author(s) regarding copyright matters 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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https://doi.org/10.1001/jamapsychiatry.2019.3779 |
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ftqueensland:oai:eprints.qut.edu.au:135841 2024-05-19T07:42:58+00:00 Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition Van Der Meer, Dennis Sonderby, Ida E. Kaufmann, Tobias Walters, G. Bragi Abdellaoui, Abdel Ames, David Amunts, Katrin Andersson, Micael Armstrong, Nicola J. Bernard, Manon Blackburn, Nicholas B. Blangero, John Boomsma, Dorret I. Brodaty, Henry Brouwer, Rachel M. Bulow, Robin Cahn, Wiepke Calhoun, Vince D. Caspers, Svenja Cavalleri, Gianpiero L. Ching, Christopher R.K. Cichon, Sven Ciufolini, Simone Corvin, Aiden Crespo-Facorro, Benedicto Curran, Joanne E. Dalvie, Shareefa Dazzan, Paola De Geus, Eco J.C. De Zubicaray, Greig I. De Zwarte, Sonja M.C. Delanty, Norman Den Braber, Anouk Desrivieres, Sylvane Di Forti, Marta Doherty, Joanne L. Donohoe, Gary Ehrlich, Stefan Eising, Else Espeseth, Thomas Fisher, Simon E. Fladby, Tormod Frei, Oleksandr Frouin, Vincent Fukunaga, Masaki Gareau, Thomas Glahn, David C. Grabe, Hans J. Groenewold, Nynke A. Gústafsson, Ómar Haavik, Jan Haberg, Asta K. Hashimoto, Ryota Hehir-Kwa, Jayne Y. Hibar, Derrek P. Hillegers, Manon H.J. Hoffmann, Per Holleran, Laurena Hottenga, Jouke Jan Hulshoff Pol, Hilleke E. Ikeda, Masashi Jacquemont, Sébastien Jahanshad, Neda Jockwitz, Christiane Johansson, Stefan Jönsson, Erik G. Kikuchi, Masataka Knowles, Emma E.M. Kwok, John B. Le Hellard, Stephanie Linden, David E.J. Liu, Jingyu Lundervold, Arvid Lundervold, Astri J. Martin, Nicholas G. Mather, Karen A. Mathias, Samuel R. McMahon, Katie L. McRae, Allan F. Medland, Sarah E. Moberget, Torgeir Moreau, Clara Morris, Derek W. Mühleisen, Thomas W. Murray, Robin M. Nordvik, Jan E. Nyberg, Lars Olde Loohuis, Loes M. Ophoff, Roel A. Owen, Michael J. Paus, Tomas Pausova, Zdenka Peralta, Juan M. Pike, Bruce Prieto, Carlos Quinlan, Erin Burke Reinbold, Céline S. Reis Marques, Tiago Rucker, James J.H. Sachdev, Perminder S. Sando, Sigrid B. Schofield, Peter R. Schork, Andrew J. Schumann, Gunter Shin, Jean Shumskaya, Elena Silva, Ana I. Sisodiya, Sanjay M. Steen, Vidar M. Stein, Dan J. Strike, Lachlan T. Tamnes, Christian K. Teumer, Alexander Thalamuthu, Anbupalam Tordesillas-Gutiérrez, Diana Uhlmann, Anne Úlfarsson, Magnús Van 'T Ent, Dennis Van Den Bree, Marianne B.M. Vassos, Evangelos Wen, Wei Wittfeld, Katharina Wright, Margaret J. Zayats, Tetyana Dale, Anders M. Djurovic, Srdjan Agartz, Ingrid Westlye, Lars T. Stefánsson, Hreinn Stefánsson, Kári Thompson, Paul M. Andreassen, Ole A. 2020-04 application/pdf https://eprints.qut.edu.au/135841/ unknown American Medical Association https://eprints.qut.edu.au/135841/1/42149615.pdf doi:10.1001/jamapsychiatry.2019.3779 Van Der Meer, Dennis, Sonderby, Ida E., Kaufmann, Tobias, Walters, G. Bragi, Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Micael, Armstrong, Nicola J., Bernard, Manon, Blackburn, Nicholas B., Blangero, John, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Bulow, Robin, Cahn, Wiepke, Calhoun, Vince D., Caspers, Svenja, Cavalleri, Gianpiero L., Ching, Christopher R.K., Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Dalvie, Shareefa, Dazzan, Paola, De Geus, Eco J.C., De Zubicaray, Greig I., De Zwarte, Sonja M.C., Delanty, Norman, Den Braber, Anouk, Desrivieres, Sylvane, Di Forti, Marta, Doherty, Joanne L., Donohoe, Gary, Ehrlich, Stefan, Eising, Else, Espeseth, Thomas, Fisher, Simon E., Fladby, Tormod, Frei, Oleksandr, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C., Grabe, Hans J., Groenewold, Nynke A., Gústafsson, Ómar, Haavik, Jan, Haberg, Asta K., Hashimoto, Ryota, Hehir-Kwa, Jayne Y., Hibar, Derrek P., Hillegers, Manon H.J., Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke Jan, Hulshoff Pol, Hilleke E., Ikeda, Masashi, Jacquemont, Sébastien, Jahanshad, Neda, Jockwitz, Christiane, Johansson, Stefan, Jönsson, Erik G., Kikuchi, Masataka, Knowles, Emma E.M., Kwok, John B., Le Hellard, Stephanie, Linden, David E.J., Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J., Martin, Nicholas G., Mather, Karen A., Mathias, Samuel R., McMahon, Katie L., McRae, Allan F., Medland, Sarah E., Moberget, Torgeir, Moreau, Clara, Morris, Derek W., Mühleisen, Thomas W., Murray, Robin M., Nordvik, Jan E., Nyberg, Lars, Olde Loohuis, Loes M., Ophoff, Roel A., Owen, Michael J., Paus, Tomas, Pausova, Zdenka, Peralta, Juan M., Pike, Bruce, Prieto, Carlos, Quinlan, Erin Burke, Reinbold, Céline S., Reis Marques, Tiago, Rucker, James J.H., Sachdev, Perminder S., Sando, Sigrid B., Schofield, Peter R., Schork, Andrew J., Schumann, Gunter, Shin, Jean, Shumskaya, Elena, Silva, Ana I., Sisodiya, Sanjay M., Steen, Vidar M., Stein, Dan J., Strike, Lachlan T., Tamnes, Christian K., Teumer, Alexander, Thalamuthu, Anbupalam, Tordesillas-Gutiérrez, Diana, Uhlmann, Anne, Úlfarsson, Magnús, Van 'T Ent, Dennis, Van Den Bree, Marianne B.M., Vassos, Evangelos, Wen, Wei, Wittfeld, Katharina, Wright, Margaret J., Zayats, Tetyana, Dale, Anders M., Djurovic, Srdjan, Agartz, Ingrid, Westlye, Lars T., Stefánsson, Hreinn, Stefánsson, Kári, Thompson, Paul M., & Andreassen, Ole A. (2020) Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region with Cortical and Subcortical Morphology and Cognition. JAMA Psychiatry, 77(4), pp. 420-430. https://eprints.qut.edu.au/135841/ Centre for Biomedical Technologies; Institute of Health and Biomedical Innovation; Faculty of Engineering free_to_read http://creativecommons.org/licenses/by-nc/4.0/ Consult author(s) regarding copyright matters 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 JAMA Psychiatry imaging Genetics Contribution to Journal 2020 ftqueensland https://doi.org/10.1001/jamapsychiatry.2019.3779 2024-04-23T23:54:23Z Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance. Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019. Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age 2 , sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort. Results: Of 45756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10 -8 ), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10 -7 ), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10 -5 ). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10 -7 ). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion ... Article in Journal/Newspaper Iceland Queensland University of Technology: QUT ePrints JAMA Psychiatry 77 4 420 |