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Table 3 Lookups of known alcohol risk variant (or proxies from 1000 Genomes Phase 3 AFR populations) associations with invasive breast cancer in the AMBER cohort

From: Influence of alcohol consumption and alcohol metabolism variants on breast cancer risk among Black women: results from the AMBER consortium

Gene region

Known variant

Proxy*

Chr

Pos (GRCh37)

R2

D'

Effect Allele

Other Allele

OR snp

95% CI

P-value

Direction

HetISq

HetPVal

Total N

EffN case

Reference PMID

ADH

rs1159918

–

4

100243009

1

1

A

C

1.170

0.971

10.886

0.099

++

0

0.770

2885

257.97

30052783

 

rs1662033

–

4

100258381

1

1

T

G

0.876

0.689

6.292

0.279

-+

52.5

0.147

2885

150.97

30052783

 

rs1693439

–

4

100245489

1

1

A

G

1.027

0.673

9.298

0.901

 +?

0

1.000

1842

42.47

30052783

 

rs2075633

–

4

100238998

1

1

T

C

1.374

1.060

16.853

0.016

++

0

0.580

2885

132.07

30052783

 

rs283415

–

4

100270607

1

1

T

C

0.933

0.747

6.964

0.536

-?

0

1.000

1842

175.24

30052783

 

rs3114046

–

4

100257432

1

1

T

C

1.022

0.669

9.202

0.920

 + ?

0

1.000

1842

42.39

30052783

 

rs3811802

–

4

100244221

1

1

A

G

0.951

0.800

7.034

0.563

- + 

67.4

0.080

2885

280.92

30052783

 

rs4147536

–

4

100239112

1

1

A

C

1.118

0.940

9.763

0.207

++

0

0.580

2885

291.48

30052783

 

rs4147542

–

4

100268553

1

1

T

C

0.891

0.747

6.279

0.202

−−

0

0.599

2885

287.70

30052783

 

rs4699741

–

4

100278697

1

1

T

C

0.708

0.470

4.938

0.099

−−

63.4

0.098

2885

53.96

30052783

 

rs9307239

–

4

100246937

1

1

T

C

1.015

0.848

8.020

0.869

++

0

0.924

2885

276.91

30052783

 

rs2066702

–

4

100229017

1

1

G

A

         

26036284

 

rs2066702

rs150627184

4

100163386

0.976

0.995

CT

C

1.494

0.867

24.674

0.148

?+

0

1.000

1043

31.16

30482948

 

rs1229984

no proxies

4

100239319

1

1

G

A

         

12189594, 22331481

 

rs698

–

4

100260789

1

1

C

T

         

30052783, 10530606

 

rs698

rs13125415

4

100270452

0.834

1

A

G

1.438

0.880

21.537

0.148

?+

0

0.000

1043

38.29

22652248

ALDH1

rs168351

 

9

75517311

1

1

A

G

0.926

0.620

7.532

0.706

−?

0

1.000

1842

53.59

29190005

 

rs1888202

 

9

75519251

1

1

C

G

1.133

0.905

10.336

0.277

+?

0

1.000

1842

162.23

29190005

 

rs348463

 

9

75547612

1

1

T

C

0.971

0.622

8.425

0.898

?−

0

1.000

1043

45.23

29190005

 

rs1424482

 

9

75563557

1

1

T

C

0.971

0.641

8.288

0.889

?−

0

1.000

1043

55.68

29190005

 

rs722921

 

9

75544299

1

1

A

T

0.976

0.805

7.477

0.807

−+

0

0.565

2885

233.57

29190005

 

rs63319

 

9

75524784

1

1

T

G

1.060

0.679

10.021

0.798

?+

0

1.000

1043

52.56

29190005

 

rs7027604

 

9

75554952

1

1

A

C

1.155

0.718

12.270

0.553

?+

0

1.000

1043

43.75

29190005

 

rs348481

 

9

75514436

1

1

C

T

0.981

0.635

8.542

0.932

?−

0

1.000

1043

47.98

29190005

 

rs348461

 

9

75545070

1

1

A

T

0.941

0.793

6.911

0.492

−+

0

0.648

2885

290.75

29190005

CYP2E1

rs2031920

–

10

135339845

1

1

C

T

0.990

0.382

11.305

0.983

−?

0

1.000

1842

9.81

28074086, 12563175

 

rs3813867

–

10

135339605

1

1

G

C

1.019

0.674

9.092

0.930

−+

22.4

0.256

2885

55.47

28074086

 

rs6413432

–

10

135348544

1

1

T

A

1.233

0.850

13.563

0.269

++

0

0.752

2885

63.72

28074086

ALDH2

rs671

No proxies

12

112241766

1

1

G

A

         

32300124

  1. *Proxy for known variant with the lowest p-value in our invasive cases meta-analysis genetic main effects results
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Breast Cancer Research

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