Search: (WFRF:(Kahn Jessica A.)) mspu:(article) pers:(Fisher Simon E.)
> (2020) >
Dose response of th...
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)
-
show less...
-
(creator_code:org_t)
- 2018-10-03
- 2020
- English.
-
In: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
- Related links:
-
https://doi.org/10.1...
-
show more...
-
https://umu.diva-por... (primary) (Raw object)
-
https://www.nature.c...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- 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)
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- 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 ...
-
show less...
- 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