Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
Abstract
Objective:
Methods:
Results:
Conclusions:
Age (years) | |||||||||||||
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Locus | Start-Stop Coordinates (hg19) (Mb) | Type | nGenes | Gene | Ascertainment (Cohorts) | N | Mean | SD | Range | Sex (M/F) | Diagnoses (ASD/SZ/Other) | IQ Point Loss | Odds Ratio (ASD/SZ) |
1q21.1 | chr1, 146.53–147.39 | Del | 7 | CHDIL | Clinical (BC, CDF, EU, SVIP) | 28 | 29 | 18 | 8–73 | 17/11 | 1/0/7 | 15 | 3.2/6.4 |
Nonclinical (UKB) | 12 | 59 | 7 | 47–68 | 5/7 | 0/1/3 | |||||||
Dup | Clinical (BC, CDF, EU, SVIP) | 17 | 35 | 17 | 8–65 | 9/8 | 1/0/4 | 25 | 5.3/2.9 | ||||
Nonclinical (UKB) | 13 | 62 | 6 | 51–72 | 9/4 | ||||||||
TAR | chr1, 145.39–145.81 | Dup | 15 | RBM8 | Nonclinical (UKB) | 31 | 60 | 8 | 48–74 | 14/17 | 2.4 | ||
13q12.12 | chr13, 23.56–24.88 | Dup | 5 | SPATA13 | Nonclinical (UKB) | 21 | 62 | 8 | 50–76 | 11/10 | 0.6 | ||
15q11.2 | chr15, 22.81–23.09 | Del | 4 | CYF1P1 | Nonclinical (UKB) | 108 | 65 | 7 | 49–78 | 59/49 | 0/0/2 | 5.7 | 1.3/1.9 |
Dup | Nonclinical (UKB) | 144 | 64 | 7 | 46–79 | 77/67 | 0/0/6 | 0.9 | 1.8/1 | ||||
16p11.2 | chr16, 29.65–30.20 | Del | 27 | KCTD13 | Clinical (BC, CDF, EU, SVIP) | 78 | 17 | 11 | 6–54 | 36/42 | 26 | 14.3/1.1 | |
Nonclinical (UKB) | 4 | 66 | 3 | 63–70 | 1/3 | ||||||||
Dup | Clinical (BC, CDF, EU, SVIP) | 68 | 31 | 15 | 8–63 | 29/39 | 10/1/19 | 11 | 10.5/11.7 | ||||
Nonclinical (UKB) | 7 | 65 | 6 | 53–69 | 3/4 | ||||||||
16p13.11 | chr16, 15.51–16.29 | Dup | 6 | NDE1 | Nonclinical (UKB) | 50 | 66 | 6 | 51–78 | 26/24 | 8.7 | 1.5/2 | |
22q11.2 | chr22, 19.04–21.47 | Del | 49 | AIFM3 | Clinical (BC, CDF, UCLA) | 68 | 14 | 6 | 6–35 | 33/35 | 8/2/31 | 28.8 | 32.3/23 |
Dup | Clinical (BC, CDF, UCLA) | 19 | 17 | 13 | 6–45 | 6/13 | 2/0/8 | 8.3 | 2/0.2 | ||||
Nonclinical (UKB) | 7 | 60 | 11 | 48–80 | 5/2 | 0/0/1 | |||||||
Control subjects | Clinical (BC, CDF, EU, SVIP, UCLA) | 317 | 26 | 14 | 6–63 | 142/175 | 1/0/23 | ||||||
Nonclinical (UKB) | 465 | 64 | 7 | 47–80 | 245/220 |
Methods
Participants
Clinically Ascertained Groups
Unselected Population Group
MRI Acquisition and Preprocessing
Subcortical Volume and Shape Segmentation
Quality Control
Normative Modeling
Statistical Analysis
Effect Sizes
Quantifying Shared Variance Across CNVs and NPDs
Results
Effects of CNVs on Subcortical Volumes
Effects of CNVs on Thickness and Local Surface Area
CNV Effect Sizes on Subcortical Volume/Shape, Cognition, and Risk for Disease
Comparing Cohen’s d Profiles of CNVs and NPDs
Subcortical Latent Dimensions Across CNVs and NPDs
Latent Dimensions Across Subcortical Shape Metrics of CNVs and NPDs
Discussion
Acknowledgments
Footnotes
Supplementary Material
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