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Table 3 Associations of newly identified mammographic density loci with breast cancer risk, overall and stratified by estrogen receptor status

From: Common genetic variation and novel loci associated with volumetric mammographic density

      

Karma

BCAC

      

Pooled MD analysis

MAF

Breast cancer overall

Breast cancer ER−

Breast cancer ER+

Locus

Base pair

Lead SNP

Gene

A1

A2

β (SE)

P overall

 

OR (95% CI)

P value

OR (95% CI)

P value

OR (95% CI)

P value

Percent dense volume

 10q25.3

115,248,851

rs2089176

HABP2

A

G

− 0.07 (0.01)

4.1 × 10− 9

0.36

0.98 (0.97–0.99)

0.01

1.00 (0.98–1.03)

0.70

0.97 (0.96–0.99)

5.3 × 10− 4

Absolute dense volume

 2q14.2

121,092,388

rs12468790

INHBB

A

G

0.08 (0.01)

2.1 × 10− 8

0.40

0.97 (0.96–0.98)

4.8 × 10− 6

0.93 (0.91–0.95)

1.5 × 10− 9

0.98 (0.96–0.99)

3.8 × 10− 3

 17q24.3

67,836,371

rs9302903

LINC01483

T

C

− 0.14 (0.02)

5.9 × 10− 9

0.09

0.96 (0.94–0.99)

1.1 × 10− 3

0.98 (0.94–1.02)

0.26

0.95 (0.93–0.98)

1.5 × 10− 4

  1. Abbreviations: BCAC Breast Cancer Association Consortium, SNP Single-nucleotide polymorphism, A1 Major allele, A2 Minor allele, MAF Minor allele frequency, ER− Estrogen receptor-negative, ER+ Estrogen receptor-positive
  2. MAF in BCAC as observed in genotyped control subjects (Europeans only). Gene refers to nearest gene