Table 2 Dose response of 16p11.2 distal copy number on subcortical volumes

From: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

  ENIGMA-CNV, discovery deCODE, replication Combined (discovery + replication)
Brain measure β P β P Q p(Q) I2 β CI, β, lower CI, β, upper P
Accumbens −0.49 0.025 −0.65 0.05 0.163 0.69 0 −0.54 −0.9 −0.18 0.0032*
Amygdala −0.21 0.31 −0.13 0.7 0.043 0.84 0 −0.19 −0.52 0.15 0.27
Caudate −0.87 2.0E–05** −0.46 0.17 1.13 0.29 11.4 −0.76 −1.1 −0.42 8.9E–06**
Hippocampus −0.14 0.48 −0.03 0.94 0.0813 0.78 0 −0.11 −0.45 0.22 0.52
Pallidum −1.06 2.2E–07** −0.95 0.0042* 0.0813 0.78 0 −1.03 −1.37 −0.7 1.7E–09**
Putamen −1.37 1.8E–11** −0.7 0.034 3.01 0.083 66.8 −1.19 −1.53 −0.85 3.5E–12**
Thalamus −0.33 0.11 −0.37 0.27 0.0105 0.92 0 −0.34 −0.69 0.01 0.054
Surface Area −0.09 0.66 0.14 0.68 0.355 0.55 0 −0.03 −0.36 0.31 0.87
Thickness −0.29 0.16 −0.02 0.94 0.49 0.48 0 −0.22 −0.55 0.12 0.2
ICV −0.71 5.1E–04* −0.54 0.1 0.194 0.66 0 −0.66 −1 −0.33 1.0E–04**
  1. The effect size (β of the linear regression) is presented. A linear regression based on the copy number state of the individuals (deletion = 1, non-carrier = 2, duplication = 3) was performed on normalized brain measures correcting for age [2], age, sex and scannersite (and ICV) in the ENIGMA-CNV (discovery) and deCODE (replication) cohorts. Results were considered statistically significant if they were below a Bonferroni-corrected P-value of 0.005 (0.05/10 regions). A final effect size estimate of the combined sample was obtained using a fixed effects meta-analysis framework
  2. CI confidence interval, Q statistics for the test for heterogeneity, p(Q) p-value for the test for heterogeneity, I2 heterogeneity levels
  3. *P < 0.005
  4. **P < 0.0005