Table 1 Selection of putative causal ASM SNPs associated with ADHD according to functional annotations

From: Exploring genetic variation that influences brain methylation in attention-deficit/hyperactivity disorder

SNP

Association with ADHDa

Effect on methylationb

Epigenetic marksc

Effect on expression (GTEx data)d

Effect on brain volumese

 

Risk allele

p-value

Enhancer

Promoter

rs2906458

G

3.01E−05

↓ cg22930187, ↓ cg06207804

6

0

↑ ARTN

–

rs12410334

A

2.87E−05

 

17

15

 

–

rs7558609

A

7.06E−05

↑ cg13047596

14

4

↓ C2orf82

↑ NAc ↑ CN

rs4140961

A

6.05E−05

↓ cg11554507

3

0

–

↑ T

rs7104929

G

7.89E−06

↓ cg20225915

15

4

↑ PIDD1 ↓ PNPLA2

?

rs10902222

T

2.03E−06

 

17

16

 

–

rs4131364

A

1.60E−06

 

17

10

 

–

rs1054252

G

3.86E−05

↑ cg04464446

4

0

↑ MRPL21, ↑ MRGPRD ↓ IGHMBP2

↓ NAc ↓ CN

  1. ASM: Allele-specific methylation, SNP: single nucleotide polymorphism, NAc: nucleus accumbens, CN: caudate nucleus, T: thalamus. Risk allele: all alleles are reported in the forward strand; Underlined: significant associations between ASM tagSNPs and ADHD overcoming Bonferroni correction for multiple testing and p-value threshold determined using independent number of tests (GEC); ↑: Hypermethylation/overexpression/increased brain volume; ↓: Hypomethylation/underexpression/decreased brain volume; “−”: No significant data for the SNP; “?”: No information available for the SNP; Enhancer: Number of H3K4me1 and H3K27ac marks; Promoter: Number of H3K4me3 and H3K9ac marks; In bold: genes with the reported CpG sites lying in their possible promoter region
  2. aData obtained from the PGC+iPSYCH ADHD GWAS meta-analysis4
  3. bDescribed in Zhang et al. 22 and Gibbs et al. 21
  4. cHistone marks found in brain areas
  5. deQTL information for brain tissues
  6. eData from the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium33
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