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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
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Abstract
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 subcorticalbrain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brainMagnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardizedFreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and onregional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P β = −0.95, P = 0.0042). The two data sets combined showedsignificant 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 noncarriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect onsubcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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