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Table 3 Selected SNP characteristics; Location, minor allele frequencies and adjusted Odds Ratio (OR) of above-median percent mammographic density (>28.5 %) by genotypes

From: Polymorphisms in the estrogen receptor alpha gene (ESR1), daily cycling estrogen and mammographic density phenotypes.

SNPa

Location

Alleles

MAFb

Genotype

OR

95 % CIc

P-value

EBBA-1 (HapMap)

rs302064

Intron

A > G

0.368 (0.39)

    
 

aa

1.0

Ref

Ref

 

Aa

3.74

0.95,14.6

0.059

 

AA

6.46

1.61, 25.9

0.009

rs2474148

Intron

G > T

0.352 (0.35)

    
 

aa

1.0

Ref

Ref

 

Aa

2.01

0.55, 7.39

0.29

 

AA

4.23

1.17, 15.6

0.028

rs12154178

Intron

C < A

0.312 (0.26)

    
 

aa

1.0

Ref

Ref

 

Aa

3.92

0.98, 7.39

0.054

 

AA

5.44

1.42, 20.9

0.014

rs2347867

Intron

G > A

0.365 (0.30)

    
 

aa

1.0

Ref

Ref

 

Aa

1.09

0.36, 3.29

0.879

 

AA

3.38

1.23, 10.1

0.030

rs6927072

Intron

T > G

0.359 (0.28)

    
 

aa

1.0

Ref

Ref

 

Aa

1.80

0.58, 5.56

0.309

 

AA

3.44

1.15, 10.3

0.028

rs2982712

Intron

C < T

0.297 (−)

    
 

aa

1.0

Ref

Ref

 

Aa

3.48

1.29, 9.36

0.014

 

AA

3.97

1.34, 11.7

0.013

rs3020407

Intron

T < C

0.455 (0.47)

    
 

aa

1.0

Ref

Ref

 

Aa

1.74

0.57, 10.3

0.331

 

AA

3.47

1.17, 10.3

0.024

rs9322335

Intron

G > A

0.327 (0.27)

    
 

aa

1.0

Ref

Ref

 

Aa

1.03

0.27, 3.88

0.969

 

AA

1.77

0.49, 6.40

0.388

  1. Odds ratio from logistic regression model adjusted for age, age at menarche, BMI and parity
  2. aSNP Single Nucleotide Polymorphisms
  3. bMAF Minor allele frequency
  4. cCI Confidence Interval