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Table 1 Expression changes of genes associated with brain volume or head size from GWAS

From: CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment

Ref.

Trait

SNP

Associated gene

Coordinate

CHD8-binding in NPCs

CHD8 +/− NPC

CHD8 +/− neuron

log2(FC)

q value

log2(FC)

q value

[68]

Hippocampal volume

rs7294919

TESC

chr12:117476728-117537284

N

0.42

0.89

−2.78

0.0020

[68]

Total brain volume

rs10494373

DDR2

chr1:162601163-162750237

N

4.12

1.68E-31

5.70

2.82E-13

[68]

Intracranial volume

rs10784502

HMGA2

chr12:66217911-66360075

Y

1.00

3.57E-06

2.97

6.67E-08

[69]

Infant head circumference

rs1042725

[69]

Infant head circumference

rs7980687

SBNO1

chr12:123773656-123849390

Y

−0.15

0.61

−0.45

0.023

[69]

Infant head circumference

rs11655470

MAPT

chr17:43971748-44105700

N

0.61

0.40

−1.82

0.070

CRHR1

chr17:43699267-43913194

N

0.15

0.90

−0.13

0.86

[67]

Intracranial volume

rs17689882

CRHR1

chr17:43699267-43913194

N

0.15

0.90

−0.13

0.86

[67]

Putamen volume

rs945270

KTN1

chr14:56025790-56168244

Y

−0.22

0.67

−0.09

0.80

[67]

Putamen volume

rs683250

DLG2

chr11:83166055-85338966

Y

0.66

0.69

−0.059

0.96

[67]

Caudate volume

rs1318862

FAT3

chr11:92085262-92629618

N

−0.92

2.45E-05

−1.27

4.98E-06

[67]

Putamen volume

rs6087771

BCL2L1

chr20:30252255-30311792

Y

0.10

0.89

−0.67

0.029

[67]

Hippocampal volume

rs61921502

MSRB3

chr12:65672423-65882024

N

0.33

0.79

2.63

8.69E-24

[67]

Putamen volume

rs62097986

DCC

chr18:49866542-51057784

Y

0.72

0.31

−0.18

0.1

  1. Significant fold changes are set in italics