Sökning: WFRF:(Pike G Bruce) > Association of Copy...
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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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