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Table 7 Top hallmark and GO biological processes pathways enriched for genes closest to DNAm probe sites in cis-mQTLs in endometrium and blood

From: Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases

Tissue

GeneSet

N

n

P value

Adjusted P

Endometrial mQTLs

Go intracellular signal transduction

1568

237

1.92E-29

5.50E-26

Go regulation of multicellular organismal development

1667

247

2.48E-29

5.50E-26

Go regulation of transport

1799

257

5.10E-28

7.54E-25

Go regulation of cell differentiation

1488

224

1.29E-27

1.43E-24

Go regulation of cell proliferation

1492

221

2.73E-26

2.42E-23

Go neurogenesis

1401

211

4.37E-26

3.23E-23

Go regulation of cell death

1471

218

5.66E-26

3.58E-23

Go locomotion

1111

179

1.16E-25

6.41E-23

Go positive regulation of molecular function

1786

248

3.00E-25

1.48E-22

Go regulation of transcription from rna polymerase ii promoter

1780

246

9.31E-25

4.13E-22

Hallmark uv response dn

144

37

9.77E-13

4.88E-11

Hallmark oestrogen response early

200

41

1.94E-10

4.84E-09

Hallmark epithelial mesenchymal transition

199

34

6.07E-07

8.57E-06

Hallmark complement

200

34

6.86E-07

8.57E-06

Hallmark androgen response

100

21

1.68E-06

9.69E-06

Hallmark hypoxia

200

33

1.94E-06

9.69E-06

Hallmark allograft rejection

200

33

1.94E-06

9.69E-06

Hallmark il2 stat5 signalling

200

33

1.94E-06

9.69E-06

Hallmark p53 pathway

200

33

1.94E-06

9.69E-06

Hallmark myogenesis

200

33

1.94E-06

9.69E-06

Blood mQTLs

Go intracellular signal transduction

1568

330

9.02e-46

4.00e-42

Go positive regulation of molecular function

1786

345

2.00e-39

4.44e-36

Go neurogenesis

1401

291

3.12e-39

4.62e-36

Go regulation of multicellular organismal development

1667

326

2.39e-38

2.29e-35

Go regulation of hydrolase activity

1325

278

2.58e-38

2.29e-35

Go regulation of intracellular signal transduction

1651

322

1.23e-37

9.08e-35

Go positive regulation of catalytic activity

1515

302

3.82e-37

2.12e-34

Go tissue development

1508

301

3.91e-37

2.12e-34

Go locomotion

1111

244

4.78e-37

2.12e-34

Go regulation of cell differentiation

1488

298

4.79e-37

2.12e-34

Hallmark uv response dn

144

48

5.31e-16

2.66e-14

Hallmark oestrogen response early

200

56

1.74e-14

4.35e-13

Hallmark epithelial mesenchymal transition

199

48

3.49e-10

5.25e-09

Hallmark complement

200

48

4.20e-10

5.25e-09

Hallmark oestrogen response late

200

46

4.04e-09

4.04e-08

Hallmark myogenesis

200

45

1.20e-08

1.00e-07

Hallmark mitotic spindle

200

44

3.48e-08

2.49e-07

Hallmark p53 pathway

200

43

9.80e-08

6.12e-07

Hallmark apical junction

199

42

2.32e-07

1.22e-06

Hallmark tnfa signalling via nfkb

200

42

2.68e-07

1.22e-06