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

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Fältnamn	Indikatorer	Metadata
000		09663naa a2202197 4500
001		oai:DiVA.org:umu-169456
003		SwePub
008		200403s2020 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:143184587
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1694562 URI
024	7	a https://doi.org/10.1038/s41380-018-0118-12 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1431845872 URI
040		a (SwePub)umud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Sonderby, Ida E.4 aut
245	1 0	a Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
264		c 2018-10-03
264	1	b Nature Publishing Group,c 2020
338		a electronic2 rdacarrier
500		a Correction: Sønderby, I.E., Gústafsson, Ó., Doan, N.T. et al. Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry 25, 692–695 (2020). https://doi.org/10.1038/s41380-019-0358-8
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Gustafsson, Omar4 aut
700	1	a Doan, Nhat Trung4 aut
700	1	a Hibar, Derrek P.4 aut
700	1	a Martin-Brevet, Sandra4 aut
700	1	a Abdellaoui, Abdel4 aut
700	1	a Ames, David4 aut
700	1	a Amunts, Katrin4 aut
700	1	a Andersson, Micaelu Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)4 aut0 (Swepub:umu)mian0001
700	1	a Armstrong, Nicola J.4 aut
700	1	a Bernard, Manon4 aut
700	1	a Blackburn, Nicholas4 aut
700	1	a Blangero, John4 aut
700	1	a Boomsma, Dorret, I4 aut
700	1	a Bralten, Janita4 aut
700	1	a Brattbak, Hans-Richard4 aut
700	1	a Brodaty, Henry4 aut
700	1	a Brouwer, Rachel M.4 aut
700	1	a Buelow, Robin4 aut
700	1	a Calhoun, Vince4 aut
700	1	a Caspers, Svenja4 aut
700	1	a Cavalleri, Gianpiero4 aut
700	1	a Chen, Chi-Hua4 aut
700	1	a Cichon, Sven4 aut
700	1	a Ciufolini, Simone4 aut
700	1	a Corvin, Aiden4 aut
700	1	a Crespo-Facorro, Benedicto4 aut
700	1	a Curran, Joanne E.4 aut
700	1	a Dale, Anders M.4 aut
700	1	a Dalvie, Shareefa4 aut
700	1	a Dazzan, Paola4 aut
700	1	a de Geus, Eco J. C.u Karolinska Institutet4 aut
700	1	a de Zubicaray, Greig, I4 aut
700	1	a de Zwarte, Sonja M. C.4 aut
700	1	a Delanty, Norman4 aut
700	1	a den Braber, Anouk4 aut
700	1	a Desrivieres, Sylvane4 aut
700	1	a Donohoe, Gary4 aut
700	1	a Draganski, Bogdan4 aut
700	1	a Ehrlich, Stefan4 aut
700	1	a Espeseth, Thomas4 aut
700	1	a Fisher, Simon E.4 aut
700	1	a Franke, Barbara4 aut
700	1	a Frouin, Vincent4 aut
700	1	a Fukunaga, Masaki4 aut
700	1	a Gareau, Thomas4 aut
700	1	a Glahn, David C.4 aut
700	1	a Grabe, Hans4 aut
700	1	a Groenewold, Nynke A.4 aut
700	1	a Haavik, Jan4 aut
700	1	a Haberg, Asta4 aut
700	1	a Hashimoto, Ryota4 aut
700	1	a Hehir-Kwa, Jayne Y.4 aut
700	1	a Heinz, Andreas4 aut
700	1	a Hillegers, Manon H. J.4 aut
700	1	a Hoffmann, Per4 aut
700	1	a Holleran, Laurena4 aut
700	1	a Hottenga, Jouke-Jan4 aut
700	1	a Hulshoff, Hilleke E.4 aut
700	1	a Ikeda, Masashi4 aut
700	1	a Jahanshad, Neda4 aut
700	1	a Jernigan, Terry4 aut
700	1	a Jockwitz, Christiane4 aut
700	1	a Johansson, Stefan4 aut
700	1	a Jonsdottir, Gudrun A.4 aut
700	1	a Joensson, Erik G.4 aut
700	1	a Kahn, Rene4 aut
700	1	a Kaufmann, Tobias4 aut
700	1	a Kelly, Sinead4 aut
700	1	a Kikuchi, Masataka4 aut
700	1	a Knowles, Emma E. M.4 aut
700	1	a Kolskar, Knut K.4 aut
700	1	a Kwok, John B.4 aut
700	1	a Le Hellard, Stephanie4 aut
700	1	a Leu, Costin4 aut
700	1	a Liu, Jingyu4 aut
700	1	a Lundervold, Astri J.4 aut
700	1	a Lundervold, Arvid4 aut
700	1	a Martin, Nicholas G.4 aut
700	1	a Mather, Karen4 aut
700	1	a Mathias, Samuel R.4 aut
700	1	a McCormack, Mark4 aut
700	1	a McMahon, Katie L.4 aut
700	1	a McRae, Allan4 aut
700	1	a Milaneschi, Yuri4 aut
700	1	a Moreau, Clara4 aut
700	1	a Morris, Derek4 aut
700	1	a Mothersill, David4 aut
700	1	a Muehleisen, Thomas W.4 aut
700	1	a Murray, Robin4 aut
700	1	a Nordvik, Jan E.4 aut
700	1	a Nyberg, Lars,d 1966-u Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI)4 aut0 (Swepub:umu)lany0001
700	1	a Loohuis, Loes M. Olde4 aut
700	1	a Ophoff, Roel4 aut
700	1	a Paus, Tomas4 aut
700	1	a Pausova, Zdenka4 aut
700	1	a Penninx, Brenda4 aut
700	1	a Peralta, Juan M.4 aut
700	1	a Pike, Bruce4 aut
700	1	a Prieto, Carlos4 aut
700	1	a Pudas, Sara,c Fil. Dr.d 1983-u Umeå universitet,Umeå centrum för funktionell hjärnavbildning (UFBI),Institutionen för integrativ medicinsk biologi (IMB)4 aut0 (Swepub:umu)saatus02
700	1	a Quinlan, Erin4 aut
700	1	a Quintana, Daniel S.4 aut
700	1	a Reinbold, Celine S.4 aut
700	1	a Marques, Tiago Reis4 aut
700	1	a Reymond, Alexandre4 aut
700	1	a Richard, Genevieve4 aut
700	1	a Rodriguez-Herreros, Borja4 aut
700	1	a Roiz-Santianez, Roberto4 aut
700	1	a Rokicki, Jarek4 aut
700	1	a Rucker, James4 aut
700	1	a Sachdev, Perminder4 aut
700	1	a Sanders, Anne-Marthe4 aut
700	1	a Sando, Sigrid B.4 aut
700	1	a Schmaal, Lianne4 aut
700	1	a Schofield, Peter R.4 aut
700	1	a Schork, Andrew J.4 aut
700	1	a Schumann, Gunter4 aut
700	1	a Shin, Jean4 aut
700	1	a Shumskaya, Elena4 aut
700	1	a Sisodiya, Sanjay4 aut
700	1	a Steen, Vidar M.4 aut
700	1	a Stein, Dan J.4 aut
700	1	a Steinberg, Stacy4 aut
700	1	a Strike, Lachlan4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Thalamuthu, Anbu4 aut
700	1	a Tordesillas-Gutierrez, Diana4 aut
700	1	a Turner, Jessica4 aut
700	1	a Ueland, Torill4 aut
700	1	a Uhlmann, Anne4 aut
700	1	a Ulfarsson, Magnus O.4 aut
700	1	a van't Ent, Dennis4 aut
700	1	a van der Meer, Dennis4 aut
700	1	a van Haren, Neeltje E. M.4 aut
700	1	a Vaskinn, Anja4 aut
700	1	a Vassos, Evangelos4 aut
700	1	a Walters, G. Bragi4 aut
700	1	a Wang, Yunpeng4 aut
700	1	a Wen, Wei4 aut
700	1	a Whelan, Christopher D.4 aut
700	1	a Wittfeld, Katharina4 aut
700	1	a Wright, Margie4 aut
700	1	a Yamamori, Hidenaga4 aut
700	1	a Zayats, Tetyana4 aut
700	1	a Agartz, Ingridu Karolinska Institutet4 aut
700	1	a Westlye, Lars T.4 aut
700	1	a Jacquemont, Sebastien4 aut
700	1	a Djurovic, Srdjan4 aut
700	1	a Stefansson, Hreinn4 aut
700	1	a Stefansson, Kari4 aut
700	1	a Thompson, Paul4 aut
700	1	a Andreassen, Ole A.4 aut
710	2	a Umeå universitetb Umeå centrum för funktionell hjärnavbildning (UFBI)4 org
773	0	t Molecular Psychiatryd : Nature Publishing Groupg 25:3, s. 584-602q 25:3<584-602x 1359-4184x 1476-5578
856	4	u https://doi.org/10.1038/s41380-018-0118-1y Fulltext
856	4	u https://umu.diva-portal.org/smash/get/diva2:1421569/FULLTEXT02.pdfx primaryx Raw objecty fulltext:print
856	4	u https://www.nature.com/articles/s41380-018-0118-1.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169456
856	4 8	u https://doi.org/10.1038/s41380-018-0118-1
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:143184587

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