Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

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Fältnamn	Indikatorer	Metadata
000		09705naa a2201897 4500
001		oai:DiVA.org:umu-169598
003		SwePub
008		200408s2020 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:143438800
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1695982 URI
024	7	a https://doi.org/10.1001/jamapsychiatry.2019.37792 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1434388002 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 van der Meer, Dennis4 aut
245	1 0	a Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
264	1	b American Medical Association (AMA),c 2020
338		a print2 rdacarrier
520		a 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, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (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 carriers compared with noncarriers on 5 of 7 tasks.Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
700	1	a Sønderby, Ida E4 aut
700	1	a Kaufmann, Tobias4 aut
700	1	a Walters, G Bragi4 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,Institutionen för integrativ medicinsk biologi (IMB),Umeå centrum för funktionell hjärnavbildning (UFBI)4 aut0 (Swepub:umu)mian0001
700	1	a Armstrong, Nicola J4 aut
700	1	a Bernard, Manon4 aut
700	1	a Blackburn, Nicholas B4 aut
700	1	a Blangero, John4 aut
700	1	a Boomsma, Dorret I4 aut
700	1	a Brodaty, Henry4 aut
700	1	a Brouwer, Rachel M4 aut
700	1	a Bülow, Robin4 aut
700	1	a Cahn, Wiepke4 aut
700	1	a Calhoun, Vince D4 aut
700	1	a Caspers, Svenja4 aut
700	1	a Cavalleri, Gianpiero L4 aut
700	1	a Ching, Christopher R K4 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 E4 aut
700	1	a Dalvie, Shareefa4 aut
700	1	a Dazzan, Paola4 aut
700	1	a de Geus, Eco J Cu Karolinska Institutet4 aut
700	1	a de Zubicaray, Greig I4 aut
700	1	a de Zwarte, Sonja M C4 aut
700	1	a Delanty, Norman4 aut
700	1	a den Braber, Anouk4 aut
700	1	a Desrivieres, Sylvane4 aut
700	1	a Di Forti, Marta4 aut
700	1	a Doherty, Joanne L4 aut
700	1	a Donohoe, Gary4 aut
700	1	a Ehrlich, Stefan4 aut
700	1	a Eising, Else4 aut
700	1	a Espeseth, Thomas4 aut
700	1	a Fisher, Simon E4 aut
700	1	a Fladby, Tormod4 aut
700	1	a Frei, Oleksandr4 aut
700	1	a Frouin, Vincent4 aut
700	1	a Fukunaga, Masaki4 aut
700	1	a Gareau, Thomas4 aut
700	1	a Glahn, David C4 aut
700	1	a Grabe, Hans J4 aut
700	1	a Groenewold, Nynke A4 aut
700	1	a Gústafsson, Ómar4 aut
700	1	a Haavik, Jan4 aut
700	1	a Haberg, Asta K4 aut
700	1	a Hashimoto, Ryota4 aut
700	1	a Hehir-Kwa, Jayne Y4 aut
700	1	a Hibar, Derrek P4 aut
700	1	a Hillegers, Manon H J4 aut
700	1	a Hoffmann, Per4 aut
700	1	a Holleran, Laurena4 aut
700	1	a Hottenga, Jouke-Jan4 aut
700	1	a Hulshoff Pol, Hilleke E4 aut
700	1	a Ikeda, Masashi4 aut
700	1	a Jacquemont, Sébastien4 aut
700	1	a Jahanshad, Neda4 aut
700	1	a Jockwitz, Christiane4 aut
700	1	a Johansson, Stefan4 aut
700	1	a Jönsson, Erik G4 aut
700	1	a Kikuchi, Masataka4 aut
700	1	a Knowles, Emma E M4 aut
700	1	a Kwok, John B4 aut
700	1	a Le Hellard, Stephanie4 aut
700	1	a Linden, David E J4 aut
700	1	a Liu, Jingyu4 aut
700	1	a Lundervold, Arvid4 aut
700	1	a Lundervold, Astri J4 aut
700	1	a Martin, Nicholas G4 aut
700	1	a Mather, Karen A4 aut
700	1	a Mathias, Samuel R4 aut
700	1	a McMahon, Katie L4 aut
700	1	a McRae, Allan F4 aut
700	1	a Medland, Sarah E4 aut
700	1	a Moberget, Torgeir4 aut
700	1	a Moreau, Clara4 aut
700	1	a Morris, Derek W4 aut
700	1	a Mühleisen, Thomas W4 aut
700	1	a Murray, Robin M4 aut
700	1	a Nordvik, Jan E4 aut
700	1	a Nyberg, Lars,d 1966-u Umeå universitet,Diagnostisk radiologi,Institutionen för integrativ medicinsk biologi (IMB),Umeå centrum för funktionell hjärnavbildning (UFBI)4 aut0 (Swepub:umu)lany0001
700	1	a Olde Loohuis, Loes M4 aut
700	1	a Ophoff, Roel A4 aut
700	1	a Owen, Michael J4 aut
700	1	a Paus, Tomas4 aut
700	1	a Pausova, Zdenka4 aut
700	1	a Peralta, Juan M4 aut
700	1	a Pike, Bruce4 aut
700	1	a Prieto, Carlos4 aut
700	1	a Quinlan, Erin Burke4 aut
700	1	a Reinbold, Céline S4 aut
700	1	a Reis Marques, Tiago4 aut
700	1	a Rucker, James J H4 aut
700	1	a Sachdev, Perminder S4 aut
700	1	a Sando, Sigrid B4 aut
700	1	a Schofield, Peter R4 aut
700	1	a Schork, Andrew J4 aut
700	1	a Schumann, Gunter4 aut
700	1	a Shin, Jean4 aut
700	1	a Shumskaya, Elena4 aut
700	1	a Silva, Ana I4 aut
700	1	a Sisodiya, Sanjay M4 aut
700	1	a Steen, Vidar M4 aut
700	1	a Stein, Dan J4 aut
700	1	a Strike, Lachlan T4 aut
700	1	a Tamnes, Christian K4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Thalamuthu, Anbupalam4 aut
700	1	a Tordesillas-Gutiérrez, Diana4 aut
700	1	a Uhlmann, Anne4 aut
700	1	a Úlfarsson, Magnús Ö4 aut
700	1	a van 't Ent, Dennis4 aut
700	1	a van den Bree, Marianne B M4 aut
700	1	a Vassos, Evangelos4 aut
700	1	a Wen, Wei4 aut
700	1	a Wittfeld, Katharina4 aut
700	1	a Wright, Margaret J4 aut
700	1	a Zayats, Tetyana4 aut
700	1	a Dale, Anders M4 aut
700	1	a Djurovic, Srdjan4 aut
700	1	a Agartz, Ingridu Karolinska Institutet4 aut
700	1	a Westlye, Lars T4 aut
700	1	a Stefánsson, Hreinn4 aut
700	1	a Stefánsson, Kári4 aut
700	1	a Thompson, Paul M4 aut
700	1	a Andreassen, Ole A4 aut
710	2	a Umeå universitetb Institutionen för integrativ medicinsk biologi (IMB)4 org
773	0	t JAMA psychiatryd : American Medical Association (AMA)g 77:4, s. 420-430q 77:4<420-430x 2168-6238x 2168-622X
856	4	u https://jamanetwork.com/journals/jamapsychiatry/articlepdf/2753864/jamapsychiatry_van_der_meer_2019_oi_190082.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169598
856	4 8	u https://doi.org/10.1001/jamapsychiatry.2019.3779
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:143438800

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Av författaren/redakt...: van der Meer, De ...; Sønderby, Ida E; Kaufmann, Tobias; Walters, G Bragi; Abdellaoui, Abde ...; Ames, David; visa fler...; Amunts, Katrin; Andersson, Micae ...; Armstrong, Nicol ...; Bernard, Manon; Blackburn, Nicho ...; Blangero, John; Boomsma, Dorret ...; Brodaty, Henry; Brouwer, Rachel ...; Bülow, Robin; Cahn, Wiepke; Calhoun, Vince D; Caspers, Svenja; Cavalleri, Gianp ...; Ching, Christoph ...; Cichon, Sven; Ciufolini, Simon ...; Corvin, Aiden; Crespo-Facorro, ...; Curran, Joanne E; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J C; de Zubicaray, Gr ...; de Zwarte, Sonja ...; Delanty, Norman; den Braber, Anou ...; Desrivieres, Syl ...; Di Forti, Marta; Doherty, Joanne ...; 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, Nynk ...; Gústafsson, Ómar; Haavik, Jan; Haberg, Asta K; Hashimoto, Ryota; Hehir-Kwa, Jayne ...; Hibar, Derrek P; Hillegers, Manon ...; Hoffmann, Per; Holleran, Lauren ...; Hottenga, Jouke- ...; Hulshoff Pol, Hi ...; Ikeda, Masashi; Jacquemont, Séba ...; Jahanshad, Neda; Jockwitz, Christ ...; Johansson, Stefa ...; Jönsson, Erik G; Kikuchi, Masatak ...; Knowles, Emma E ...; Kwok, John B; Le Hellard, Step ...; Linden, David E ...; Liu, Jingyu; Lundervold, Arvi ...; Lundervold, Astr ...; Martin, Nicholas ...; Mather, Karen A; Mathias, Samuel ...; McMahon, Katie L; McRae, Allan F; Medland, Sarah E; Moberget, Torgei ...; Moreau, Clara; Morris, Derek W; Mühleisen, Thoma ...; Murray, Robin M; Nordvik, Jan E; Nyberg, Lars, 19 ...; Olde Loohuis, Lo ...; Ophoff, Roel A; Owen, Michael J; Paus, Tomas; Pausova, Zdenka; Peralta, Juan M; Pike, Bruce; Prieto, Carlos; Quinlan, Erin Bu ...; Reinbold, Céline ...; Reis Marques, Ti ...; Rucker, James J ...; Sachdev, Permind ...; Sando, Sigrid B; Schofield, Peter ...; Schork, Andrew J; Schumann, Gunter; Shin, Jean; Shumskaya, Elena; Silva, Ana I; Sisodiya, Sanjay ...; Steen, Vidar M; Stein, Dan J; Strike, Lachlan ...; Tamnes, Christia ...; Teumer, Alexande ...; Thalamuthu, Anbu ...; Tordesillas-Guti ...; Uhlmann, Anne; Úlfarsson, Magnú ...; van 't Ent, Denn ...; van den Bree, Ma ...; Vassos, Evangelo ...; Wen, Wei; Wittfeld, Kathar ...; Wright, Margaret ...; Zayats, Tetyana; Dale, Anders M; Djurovic, Srdjan; Agartz, Ingrid; Westlye, Lars T; Stefánsson, Hrei ...; Stefánsson, Kári; Thompson, Paul M; Andreassen, Ole ...; visa färre...

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