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Table 3 Associations between SNPs in genes involved in the estrogen pathway and mammographic density

From: Polymorphisms in genes involved in the estrogen pathway and mammographic density

    

Mean mammographic density

    

Percent density (%) (95% CI)a

Absolute density (cm2)b(95% CI)

Gene name

SNP reference IDc

Genotype

N (%)d

Crude

Adjustede

Crude

Adjustede

ERα

rs2077647

TT

189 (25.96)

42.5 (39.0-46.0)

42.5 (39.7-45.4)

47.7 (43.6-51.9)

47.6 (43.8-51.7)

  

TC

357 (49.04)

42.5 (40.0-45.1)

42.5 (40.5-44.6)

47.8 (44.8-50.8)

47.1 (44.3-50.0)

  

CC

182 (25.00)

42.6 (39.0-46.1)

43.3 (40.4-46.3)

45.5 (41.5-49.7)

44.8 (40.9-48.8)

  

P trend f

 

0.98

0.69

0.48

0.31

 

rs2234693

AA

211 (28.71)

41.6 (38.3-44.8)

42.3 (39.5-45.0)

48.0 (44.1-52.0)

48.3 (44.6-52.2)

  

AG

350 (47.62)

42.6 (40.1-45.2)

42.1 (40.0-44.2)

47.6 (44.7-50.7)

46.7 (43.9-49.7)

  

GG

174 (23.67)

42.7 (39.1-46.3)

43.7 (40.7-46.7)

45.2 (41.1-49.4)

44.3 (40.4-48.4)

  

P trend

 

0.63

0.50

0.35

0.16

 

rs9340799

AA

301 (40.95)

42.1 (39.3-44.8)

42.7 (40.5-45.0)

49.1 (45.8-52.5)

49.4 (46.2-52.6)

  

AG

327 (44.49)

42.2 (39.6-44.9)

41.8 (39.6-43.9)

45.8 (42.8-49.0)

44.6 (41.7-47.5)

  

GG

107 (14.56)

43.9 (39.3-48.5)

44.9 (41.1-48.7)

46.6 (41.4-52.2)

46.2 (41.2-51.6)

  

P trend

 

0.58

0.58

0.26

0.11

 

rs2228480

CC

508 (69.02)

41.5 (39.4-43.6)

42.0 (40.3-43.8)

46.3 (43.9-48.9)

46.1 (43.8-48.5)

  

CT

207 (28.13)

44.4 (41.1-47.7)

43.4 (40.7-46.1)

48.6 (44.7-52.6)

46.9 (43.2-50.8)

  

TT

21 (2.85)

43.0 (32.6-53.4)

47.3 (38.7-55.9)

53.2 (40.9-67.2)

56.6 (44.3-70.5)

  

P trend

 

0.20

0.20

0.19

0.25

ERβ

rs3829768

TT

733 (99.73)

42.4 (40.6-44.1)

42.6 (41.2-44.0)

47.2 (45.1-49.3)

46.7 (44.7-48.7)

  

TC

2(0.27)

30.3 (-3.4-64.0)

16.5 (-11.2-44.2)

45.6 (15.9-94.2)

34.0 (10.6-74.7)

  

P trend

 

0.48

0.07

0.94

0.48

 

rs1256049

GG

688 (93.35)

42.6 (40.8-44.4)

42.8 (41.3-44.2)

47.4 (45.3-49.6)

46.9 (44.8-48.9)

  

GA

48 (6.51)

38.9 (32.0-45.8)

40.0 (34.3-45.6)

44.2 (36.7-52.4)

44.5 (37.3-52.5)

  

AA

1 (0.14)

43.0 (-4.7-90.7)

 

54.1 (12.1-133.8)

 
  

P trend

 

0.33

0.35

0.50

0.57

HSD17B1

rs676387

GG

390 (52.92)

42.2 (39.8-44.6)

41.7 (39.8-43.7)

46.2 (43.4-49.0)

45.1 (42.5-47.8)

  

GT

288 (39.08)

42.8 (40.0-45.6)

43.4 (41.1-45.7)

48.4 (45.1-51.8)

48.4 (45.2-51.7)

  

TT

59 (8.01)

40.1 (33.9-46.3)

42.6 (37.4-47.9)

46.4 (39.5-54.0)

47.3 (40.4-54.8)

  

P trend

 

0.83

0.39

0.53

0.20

 

rs598126

CC

195 (26.64)

41.2 (37.8-44.7)

42.6 (39.8-45.5)

48.2 (44.2-52.4)

48.4 (44.5-52.5)

  

CT

354 (48.36)

43.7 (41.1-46.2)

43.1 (41.0-45.2)

47.6 (44.6-50.6)

46.6 (43.8-49.5)

  

TT

183 (25.00)

40.5 (37.0-44.1)

41.0 (38.1-43.9)

44.5 (40.6-48.6)

44.3 (40.5-48.3)

  

P trend

 

0.81

0.44

0.21

0.15

 

rs2010750

GG

237 (32.29)

41.9 (38.8-45.0)

42.8 (40.3-45.4)

47.7 (44.1-51.5)

47.5 (44.0-51.1)

  

GA

351 (47.82)

43.6 (41.0-46.1)

43.1 (41.0-45.1)

48.0 (45.0-51.1)

47.3 (44.5-50.2)

  

AA

146 (19.89)

40.2 (36.3-44.2)

41.0 (37.7-44.2)

44.2 (39.9-48.8)

44.0 (39.7-48.4)

  

P trend

 

0.67

0.46

0.30

0.26

COMT

rs4680

GG

190 (25.85)

43.1 (39.6-46.6)

42.4 (39.5-45.3)

48.0 (44.0-52.2)

47.7 (43.8-51.8)

  

GA

375 (51.02)

43.3 (40.8-45.8)

43.8 (41.7-45.8)

47.1 (44.3-50.1)

46.5 (43.7-49.3)

  

AA

170 (23.13)

39.0 (35.3-42.6)

39.6 (36.6-42.6)

45.7 (41.6-50.1)

45.4 (41.5-49.6)

  

P trend

 

0.12

0.21

0.45

0.43

CYP1B1

rs1056836

CC

219 (29.72)

43.7 (40.4-46.9)

43.7 (41.0-46.3)

49.6 (45.8-53.6)

48.8 (45.2-52.6)

  

CG

372 (50.47)

42.3 (39.8-44.8)

42.8 (40.8-44.8)

46.7 (43.8-49.6)

46.4 (43.7-49.2)

  

GG

146 (19.81)

40.2 (36.2-44.1)

39.8 (36.6-43.1)

44.2 (39.9-48.9)

43.6 (39.4-48.0)

  

P trend

 

0.18

0.09

0.07

0.08

  1. a CI: confidence interval. b Means of absolute density are presented as back-transformed values.
  2. c SNPs: single nucleotide polymorphisms. They are identified by their dbSNP accession number at http://www.ncbi.nlm.nih.gov/SNP/.
  3. d N (%) values are slightly lower in adjusted models because of ten missing values in adjustment variables. e Adjusted for age at mammography, body mass index, waist-to-hip ratio, height, age at menarche, age at first birth, number of full-term pregnancies, breastfeeding, number of breast biopsies, family history of breast cancer, past contraceptive and hormone replacement therapy uses, smoking status, energy and alcohol intakes, physical activity and education. f P value is the P trend, testing genotype dosage, number of copies of the rare allele entered as 0, 1, 2 and mammographic density entered as continuous variable.
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BMC Cancer

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