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Table 1 Enrichment of ESR1 binding sites within genomic regions associated with diseases or traits from GWAS

From: Integrating multiple oestrogen receptor alpha ChIP studies: overlap with disease susceptibility regions, DNase I hypersensitivity peaks and gene expression

GWAS disease/trait

All ESR1

ESR1 in ≥3 datasets

ESR1 in ≥5 datasets

ESR1 in ≥8 datasets

ESR1 in ≥11 datasets

 

O/E

p

O/E

p

O/E

p

O/E

p

O/E

p

Androgen levels

1.02

0.8857

0.75

0.8063

0.67

0.9093

1.60

0.4880

4.47

0.1062

Estradiol levels

1.67

0.8659

1.21

0.7437

1.06

0.8905

1.82

0.6311

0.00

1.0000

Breast cancer

2.09

0.0002

3.21

0.0004

3.92

0.0012

5.98

0.0038

7.45

0.0012

(0.002)

 

(0.002)

 

(0.002)

 

(0.002)

 

(0.002)

Coronary artery disease

1.43

0.0002

1.69

0.0068

1.74

0.0270

1.90

0.0704

0.49

0.4322

(0.002)

 

(0.002)

 

(0.005)

    

Height

1.55

0.0002

1.77

0.0002

1.87

0.0004

2.36

0.0012

2.45

0.0018

(0.002)

 

(0.002)

 

(0.002)

 

(0.004)

 

(0.004)

Male baldness

0.75

0.1652

0.42

0.1840

0.37

0.3384

0.41

0.7137

1.16

0.5043

Menopause

1.05

0.8431

0.89

0.7393

0.67

0.4668

0.59

0.5813

0.64

0.9471

Menarche

1.11

0.4504

1.20

0.5341

1.30

0.4410

1.60

0.2680

1.07

0.9173

Migraine

1.29

0.2036

1.55

0.2554

2.42

0.0618

1.32

0.6031

0.00

1.0000

Multiple sclerosis

2.98

0.0002

2.98

0.0002

3.40

0.0002

4.22

0.0008

5.97

0.0002

(0.002)

 

(0.002)

 

(0.002)

 

(0.002)

 

(0.047)

Ovarian cancer

1.79

0.0134

1.93

0.2676

2.64

0.1596

3.61

0.1564

0.00

1.0000

(0.002)

        

Parkinson’s disease

1.54

0.0228

1.65

0.2158

1.62

0.3910

1.17

0.9067

1.35

0.9077

(0.002)

        

Polycystic ovarian syndrome

2.42

0.0002

3.60

0.0038

2.20

0.3386

1.79

0.6467

3.21

0.3286

(0.002)

 

(0.022)

      

Prostate cancer

1.82

0.0002

2.40

0.0002

2.62

0.0006

2.76

0.0168

4.47

0.0008

(0.002)

 

(0.002)

 

(0.002)

 

(0.002)

 

(0.002)

Sex hormone binding globulin levels

1.09

0.8553

0.70

0.4008

0.46

0.2856

0.29

0.3958

0.00

1.0000

Testicular cancer

1.52

0.0056

1.36

0.3218

0.57

0.7883

0.92

0.7523

2.59

0.1498

  

(0.002)

        
  1. Enrichment is shown by differing numbers of shared datasets. Significant enrichment is highlighted in bold and the p-value corrected for genomic location of genes is shown in parenthesis after nominally significant enrichments. O/E = observed/expected ratio.