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Table 2 Traits and diseases from the NHGRI GWAS catalog with associated loci enriched for local meQTLs

From: High density methylation QTL analysis in human blood via next-generation sequencing of the methylated genomic DNA fraction

Phenotype

N annot

Overlap

Fisher PV

OR

Perm Z

Perm PV

Perm QV

Bone mineral density

25

15

1.58E-07

9.03

6.530

4.40E-10

1.07E-07

Breast cancer

34

17

8.28E-07

6.02

5.878

2.51E-08

3.05E-06

Blood pressure

9

7

3.28E-05

21.06

5.551

1.63E-07

1.31E-05

Height

90

31

1.25E-06

3.16

5.499

2.16E-07

1.31E-05

Major depressive disorder

14

9

2.44E-05

10.84

5.452

2.80E-07

1.36E-05

Non-alcoholic fatty liver disease

7

6

5.13E-05

36.10

5.413

3.47E-07

1.41E-05

Alzheimer’s disease

17

10

2.54E-05

8.60

5.203

1.06E-06

3.67E-05

Rheumatoid arthritis

37

16

1.84E-05

4.59

5.167

1.27E-06

3.86E-05

Hypertension

10

7

9.59E-05

14.05

5.010

2.82E-06

7.62E-05

QRS duration

8

6

1.80E-04

18.06

4.911

4.62E-06

1.08E-04

Crohn’s disease

42

17

2.89E-05

4.09

4.900

4.89E-06

1.08E-04

Pulmonary function decline

6

5

3.10E-04

30.10

4.803

7.79E-06

1.58E-04

IgG glycosylation

70

23

8.67E-05

2.95

4.409

4.80E-05

8.98E-04

Systemic lupus erythematosus

15

8

4.25E-04

6.88

4.199

1.18E-04

1.93E-03

Bone mineral density — spine

5

4

1.82E-03

24.08

4.198

1.19E-04

1.93E-03

Hip geometry

5

4

1.82E-03

24.08

4.173

1.32E-04

2.01E-03

Autism spectrum, attention deficit-hyperactivity, bipolar and major depressive disorders and schizophrenia combined

19

9

5.72E-04

5.42

4.103

1.77E-04

2.52E-03

Mean corpuscular hemoglobin

5

4

1.82E-03

24.08

4.084

1.90E-04

2.57E-03

Tuberculosis

8

5

2.25E-03

10.03

4.031

2.36E-04

3.02E-03

Bipolar disorder and schizophrenia

24

10

9.86E-04

4.30

3.799

5.85E-04

7.11E-03

Obesity-related traits

165

40

7.21E-04

1.93

3.709

8.22E-04

9.52E-03

  1. We examined 494,420 meQTLs out of 3,470,923 methylation sites, after removal of sites in regions flagged as copy number variants, genomic duplications or pseudogenes. We consider local meQTLs and do not stratify by presence or absence of CpG-SNPs at the meQTL site. “N annot” is the number of loci in the NHGRI GWAS catalog for that trait or disease, “Overlap” is the number of GWAS loci that overlap with a local meQTL, “Fisher PV” is the p value from the Fisher exact test of enrichment, “OR” is the odds ratio, “Perm Z” is the Z-statistic of the permutation test, “Perm PV” is the p value from >300,000 permutations, “Perm QV” is the q value of the permutation test. Only findings passing FDR control with q value < 0.01 are shown