Table 3 Summary of findings on significant associations of CNVs impacting Autism Spectrum Disorder or Intellectual Disability (ASD/ID) or differentially brain expressed (DBE) genes with clinical phenotypes

From: The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

Independent variable (gene list)

Dependent variable (phenotype)

N

OR

LCL

UCL

P

ASD/ID All

Language delay

1559

0.53

0.34

0.80

0.003

Deletions in ASD/ID

Language delay

1559

0.43

0.24

0.77

0.005

Duplications in ASD/ID

VABS composite

1247

0.48

0.25

0.90

0.022

 

VABS communication

1261

0.45

0.24

0.83

0.010

All CNVs in DBE

VABS daily living skills

1254

0.73

0.57

0.93

0.012

 

VABS composite

1247

0.63

0.49

0.82

0.001

Deletions in DBE

VABS composite

1247

0.63

0.49

0.82

<0.001

Duplications in DBE

VABS socialization

1273

0.66

0.51

0.86

0.002

 

VABS daily living skills

1254

0.65

0.50

0.84

0.001

 

VABS omposite

1247

0.60

0.46

0.79

<0.001

 

VABS communication

1261

0.73

0.57

0.93

0.010

All De novo

Seizures

1237

2.02

1.17

3.50

0.012

ASD/ID De novo

Seizures

1237

3.47

1.26

9.59

0.017

DBE De novo

Family type (Simplex vs Multiplex)

1168

2.50

1.22

5.11

0.012

  1. Abbreviations: CNV, copy number variation; VABS, Vineland Adaptive Behavior Scales. Only statistically significant findings (α=0.05) in adjusted models are shown, along with their associated odds ratio (OR), lower (LCL) and upper (UCL) 95% confidence limits and P-value (P).
Back to article page