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000867608 1001_ $$0P:(DE-HGF)0$$aCommittee, Writing$$b0$$eCorresponding author
000867608 245__ $$aAssociation of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
000867608 260__ $$aChicago, Ill.$$bAMA$$c2020
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000867608 520__ $$aRecurrent 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.To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.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.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.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.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.
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000867608 7001_ $$0P:(DE-HGF)0$$avan der Meer, Dennis$$b1
000867608 7001_ $$0P:(DE-HGF)0$$aSønderby, Ida E$$b2
000867608 7001_ $$0P:(DE-HGF)0$$aKaufmann, Tobias$$b3
000867608 7001_ $$0P:(DE-HGF)0$$aWalters, G Bragi$$b4
000867608 7001_ $$0P:(DE-HGF)0$$aAbdellaoui, Abdel$$b5
000867608 7001_ $$0P:(DE-HGF)0$$aAmes, David$$b6
000867608 7001_ $$0P:(DE-Juel1)131631$$aAmunts, Katrin$$b7
000867608 7001_ $$aAndersson, Micael$$b8
000867608 7001_ $$aArmstrong, Nicola J$$b9
000867608 7001_ $$aBernard, Manon$$b10
000867608 7001_ $$aBlackburn, Nicholas B$$b11
000867608 7001_ $$aBlangero, John$$b12
000867608 7001_ $$aBoomsma, Dorret I$$b13
000867608 7001_ $$aBrodaty, Henry$$b14
000867608 7001_ $$aBrouwer, Rachel M$$b15
000867608 7001_ $$aBülow, Robin$$b16
000867608 7001_ $$aCahn, Wiepke$$b17
000867608 7001_ $$aCalhoun, Vince D$$b18
000867608 7001_ $$0P:(DE-Juel1)131675$$aCaspers, Svenja$$b19
000867608 7001_ $$aCavalleri, Gianpiero L$$b20
000867608 7001_ $$aChing, Christopher R K$$b21
000867608 7001_ $$0P:(DE-Juel1)140234$$aCichon, Sven$$b22
000867608 7001_ $$aCiufolini, Simone$$b23
000867608 7001_ $$aCorvin, Aiden$$b24
000867608 7001_ $$aCrespo-Facorro, Benedicto$$b25
000867608 7001_ $$aCurran, Joanne E$$b26
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000867608 7001_ $$ade Geus, Eco J C$$b29
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000867608 7001_ $$aEhrlich, Stefan$$b38
000867608 7001_ $$aEising, Else$$b39
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000867608 7001_ $$aFisher, Simon E$$b41
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000867608 7001_ $$aJönsson, Erik G$$b66
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000867608 7001_ $$aTordesillas-Gutiérrez, Diana$$b115
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000867608 7001_ $$avan 't Ent, Dennis$$b118
000867608 7001_ $$avan den Bree, Marianne B M$$b119
000867608 7001_ $$aVassos, Evangelos$$b120
000867608 7001_ $$aWen, Wei$$b121
000867608 7001_ $$aWittfeld, Katharina$$b122
000867608 7001_ $$aWright, Margaret J$$b123
000867608 7001_ $$aZayats, Tetyana$$b124
000867608 7001_ $$aDale, Anders M$$b125
000867608 7001_ $$aDjurovic, Srdjan$$b126
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000867608 7001_ $$aStefánsson, Hreinn$$b129
000867608 7001_ $$aStefánsson, Kári$$b130
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000867608 7001_ $$aGroup, ENIGMA-CNV Working$$b133$$eCollaboration author
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