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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Sonderby, Ida E. (author)
Gustafsson, Omar (author)
Doan, Nhat Trung (author)
show more...
Hibar, Derrek P. (author)
Martin-Brevet, Sandra (author)
Abdellaoui, Abdel (author)
Ames, David (author)
Amunts, Katrin (author)
Andersson, Micael (author)
Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)
Armstrong, Nicola J. (author)
Bernard, Manon (author)
Blackburn, Nicholas (author)
Blangero, John (author)
Boomsma, Dorret, I (author)
Bralten, Janita (author)
Brattbak, Hans-Richard (author)
Brodaty, Henry (author)
Brouwer, Rachel M. (author)
Buelow, Robin (author)
Calhoun, Vince (author)
Caspers, Svenja (author)
Cavalleri, Gianpiero (author)
Chen, Chi-Hua (author)
Cichon, Sven (author)
Ciufolini, Simone (author)
Corvin, Aiden (author)
Crespo-Facorro, Benedicto (author)
Curran, Joanne E. (author)
Dale, Anders M. (author)
Dalvie, Shareefa (author)
Dazzan, Paola (author)
de Geus, Eco J. C. (author)
Karolinska Institutet
de Zubicaray, Greig, I (author)
de Zwarte, Sonja M. C. (author)
Delanty, Norman (author)
den Braber, Anouk (author)
Desrivieres, Sylvane (author)
Donohoe, Gary (author)
Draganski, Bogdan (author)
Ehrlich, Stefan (author)
Espeseth, Thomas (author)
Fisher, Simon E. (author)
Franke, Barbara (author)
Frouin, Vincent (author)
Fukunaga, Masaki (author)
Gareau, Thomas (author)
Glahn, David C. (author)
Grabe, Hans (author)
Groenewold, Nynke A. (author)
Haavik, Jan (author)
Haberg, Asta (author)
Hashimoto, Ryota (author)
Hehir-Kwa, Jayne Y. (author)
Heinz, Andreas (author)
Hillegers, Manon H. J. (author)
Hoffmann, Per (author)
Holleran, Laurena (author)
Hottenga, Jouke-Jan (author)
Hulshoff, Hilleke E. (author)
Ikeda, Masashi (author)
Jahanshad, Neda (author)
Jernigan, Terry (author)
Jockwitz, Christiane (author)
Johansson, Stefan (author)
Jonsdottir, Gudrun A. (author)
Joensson, Erik G. (author)
Kahn, Rene (author)
Kaufmann, Tobias (author)
Kelly, Sinead (author)
Kikuchi, Masataka (author)
Knowles, Emma E. M. (author)
Kolskar, Knut K. (author)
Kwok, John B. (author)
Le Hellard, Stephanie (author)
Leu, Costin (author)
Liu, Jingyu (author)
Lundervold, Astri J. (author)
Lundervold, Arvid (author)
Martin, Nicholas G. (author)
Mather, Karen (author)
Mathias, Samuel R. (author)
McCormack, Mark (author)
McMahon, Katie L. (author)
McRae, Allan (author)
Milaneschi, Yuri (author)
Moreau, Clara (author)
Morris, Derek (author)
Mothersill, David (author)
Muehleisen, Thomas W. (author)
Murray, Robin (author)
Nordvik, Jan E. (author)
Nyberg, Lars, 1966- (author)
Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)
Loohuis, Loes M. Olde (author)
Ophoff, Roel (author)
Paus, Tomas (author)
Pausova, Zdenka (author)
Penninx, Brenda (author)
Peralta, Juan M. (author)
Pike, Bruce (author)
Prieto, Carlos (author)
Pudas, Sara, Fil. Dr. 1983- (author)
Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI),Institutionen för integrativ medicinsk biologi (IMB)
Quinlan, Erin (author)
Quintana, Daniel S. (author)
Reinbold, Celine S. (author)
Marques, Tiago Reis (author)
Reymond, Alexandre (author)
Richard, Genevieve (author)
Rodriguez-Herreros, Borja (author)
Roiz-Santianez, Roberto (author)
Rokicki, Jarek (author)
Rucker, James (author)
Sachdev, Perminder (author)
Sanders, Anne-Marthe (author)
Sando, Sigrid B. (author)
Schmaal, Lianne (author)
Schofield, Peter R. (author)
Schork, Andrew J. (author)
Schumann, Gunter (author)
Shin, Jean (author)
Shumskaya, Elena (author)
Sisodiya, Sanjay (author)
Steen, Vidar M. (author)
Stein, Dan J. (author)
Steinberg, Stacy (author)
Strike, Lachlan (author)
Teumer, Alexander (author)
Thalamuthu, Anbu (author)
Tordesillas-Gutierrez, Diana (author)
Turner, Jessica (author)
Ueland, Torill (author)
Uhlmann, Anne (author)
Ulfarsson, Magnus O. (author)
van't Ent, Dennis (author)
van der Meer, Dennis (author)
van Haren, Neeltje E. M. (author)
Vaskinn, Anja (author)
Vassos, Evangelos (author)
Walters, G. Bragi (author)
Wang, Yunpeng (author)
Wen, Wei (author)
Whelan, Christopher D. (author)
Wittfeld, Katharina (author)
Wright, Margie (author)
Yamamori, Hidenaga (author)
Zayats, Tetyana (author)
Agartz, Ingrid (author)
Karolinska Institutet
Westlye, Lars T. (author)
Jacquemont, Sebastien (author)
Djurovic, Srdjan (author)
Stefansson, Hreinn (author)
Stefansson, Kari (author)
Thompson, Paul (author)
Andreassen, Ole A. (author)
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 (creator_code:org_t)
2018-10-03
2020
English.
In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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By the author/editor
Sonderby, Ida E.
Gustafsson, Omar
Doan, Nhat Trung
Hibar, Derrek P.
Martin-Brevet, S ...
Abdellaoui, Abde ...
show more...
Ames, David
Amunts, Katrin
Andersson, Micae ...
Armstrong, Nicol ...
Bernard, Manon
Blackburn, Nicho ...
Blangero, John
Boomsma, Dorret, ...
Bralten, Janita
Brattbak, Hans-R ...
Brodaty, Henry
Brouwer, Rachel ...
Buelow, Robin
Calhoun, Vince
Caspers, Svenja
Cavalleri, Gianp ...
Chen, Chi-Hua
Cichon, Sven
Ciufolini, Simon ...
Corvin, Aiden
Crespo-Facorro, ...
Curran, Joanne E ...
Dale, Anders M.
Dalvie, Shareefa
Dazzan, Paola
de Geus, Eco J. ...
de Zubicaray, Gr ...
de Zwarte, Sonja ...
Delanty, Norman
den Braber, Anou ...
Desrivieres, Syl ...
Donohoe, Gary
Draganski, Bogda ...
Ehrlich, Stefan
Espeseth, Thomas
Fisher, Simon E.
Franke, Barbara
Frouin, Vincent
Fukunaga, Masaki
Gareau, Thomas
Glahn, David C.
Grabe, Hans
Groenewold, Nynk ...
Haavik, Jan
Haberg, Asta
Hashimoto, Ryota
Hehir-Kwa, Jayne ...
Heinz, Andreas
Hillegers, Manon ...
Hoffmann, Per
Holleran, Lauren ...
Hottenga, Jouke- ...
Hulshoff, Hillek ...
Ikeda, Masashi
Jahanshad, Neda
Jernigan, Terry
Jockwitz, Christ ...
Johansson, Stefa ...
Jonsdottir, Gudr ...
Joensson, Erik G ...
Kahn, Rene
Kaufmann, Tobias
Kelly, Sinead
Kikuchi, Masatak ...
Knowles, Emma E. ...
Kolskar, Knut K.
Kwok, John B.
Le Hellard, Step ...
Leu, Costin
Liu, Jingyu
Lundervold, Astr ...
Lundervold, Arvi ...
Martin, Nicholas ...
Mather, Karen
Mathias, Samuel ...
McCormack, Mark
McMahon, Katie L ...
McRae, Allan
Milaneschi, Yuri
Moreau, Clara
Morris, Derek
Mothersill, Davi ...
Muehleisen, Thom ...
Murray, Robin
Nordvik, Jan E.
Nyberg, Lars, 19 ...
Loohuis, Loes M. ...
Ophoff, Roel
Paus, Tomas
Pausova, Zdenka
Penninx, Brenda
Peralta, Juan M.
Pike, Bruce
Prieto, Carlos
Pudas, Sara, Fil ...
Quinlan, Erin
Quintana, Daniel ...
Reinbold, Celine ...
Marques, Tiago R ...
Reymond, Alexand ...
Richard, Genevie ...
Rodriguez-Herrer ...
Roiz-Santianez, ...
Rokicki, Jarek
Rucker, James
Sachdev, Permind ...
Sanders, Anne-Ma ...
Sando, Sigrid B.
Schmaal, Lianne
Schofield, Peter ...
Schork, Andrew J ...
Schumann, Gunter
Shin, Jean
Shumskaya, Elena
Sisodiya, Sanjay
Steen, Vidar M.
Stein, Dan J.
Steinberg, Stacy
Strike, Lachlan
Teumer, Alexande ...
Thalamuthu, Anbu
Tordesillas-Guti ...
Turner, Jessica
Ueland, Torill
Uhlmann, Anne
Ulfarsson, Magnu ...
van't Ent, Denni ...
van der Meer, De ...
van Haren, Neelt ...
Vaskinn, Anja
Vassos, Evangelo ...
Walters, G. Brag ...
Wang, Yunpeng
Wen, Wei
Whelan, Christop ...
Wittfeld, Kathar ...
Wright, Margie
Yamamori, Hidena ...
Zayats, Tetyana
Agartz, Ingrid
Westlye, Lars T.
Jacquemont, Seba ...
Djurovic, Srdjan
Stefansson, Hrei ...
Stefansson, Kari
Thompson, Paul
Andreassen, Ole ...
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About the subject
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
Articles in the publication
Molecular Psychi ...
By the university
Umeå University
Karolinska Institutet

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