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Table 2 SNP genotype distributions and associations with breast cancer risk.

From: Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

Mutation

Genotype

Unaffected

N (%)

Affecteda

N (%)

HR

95% CI

P-value

CDK2NA/B - rs1011970

     

BRCA1

GG

4,318 (69.7)

4,460 (70.0)

1

  
 

GT

1,698 (27.4)

1,719 (27.0)

1.01

0.94 to 1.09

 
 

TT

180 (2.9)

195 (3.1)

1.11

0.91 to 1.35

 
 

2-df test

    

0.61

 

per allele

  

1.03

0.96 to 1.09

0.45

BRCA2

GG

2,279 (68.7)

2,586 (67.9)

1

  
 

GT

943 (28.4)

1,098 (28.9)

1.08

0.98 to 1.19

 
 

TT

94 (2.8)

123 (3.2)

1.23

0.95 to 1.59

 
 

2-df test

    

0.12

 

per allele

  

1.09

1.00 to 1.18

0.048

ZNF365 - rs10995190

    

BRCA1

GG

4,394 (70.9)

4,556 (71.5)

1

  
 

GA

1,656 (26.7)

1,662 (26.1)

0.98

0.91 to 1.06

 
 

AA

147 (2.4)

156 (2.5)

0.98

0.79 to 1.20

 
 

2-df test

    

0.89

 

per allele

  

0.99

0.93 to 1.05

0.64

BRCA2

GG

2,334 (70.4)

2,802 (73.7)

1

  
 

GA

913 (27.5)

923 (24.3)

0.86

0.78 to 0.96

 
 

AA

68 (20.1)

79 (2.1)

0.96

0.69 to 1.34

 
 

2-df test

    

0.019

 

per allele

  

0.90

0.82 to 0.98

0.015

ZMIZ1 - rs704010

    

BRCA1

CC

2,476 (40.3)

2,504 (39.8)

1

  
 

CT

2,814 (45.8)

2,894 (46.0)

1.03

0.96 to 1.10

 
 

TT

855 (13.9)

888 (14.1)

1.04

0.93 to 1.15

 
 

2-df test

    

0.69

 

per allele

  

1.02

0.97 to 1.07

0.42

BRCA2

CC

1,286 (39.3)

1,443 (38.4)

1

  
 

CT

1,496 (45.7)

1,779 (47.3)

1.07

0.97 to 1.18

 
 

TT

494 (15.8)

539 (14.3)

0.99

0.86 to 1.14

 
 

2-df test

    

0.32

 

per allele

  

1.01

0.95 to 1.08

0.73

10p15 - rs2380205

     

BRCA1

CC

1,609 (32.5)

1,710 (32.1)

1

  
 

CT

2,410 (48.7)

2,625 (49.3)

1.01

0.93 to 1.09

 
 

TT

933 (18.8)

990 (18.6)

1.02

0.92 to 1.13

 
 

2-df test

    

0.95

 

per allele

  

1.01

0.96 to 1.06

0.75

BRCA2

CC

1,013 (32.8)

1,163 (31.8)

1

  
 

CT

1,516 (49.1)

1,816 (49.7)

1.05

0.95 to 1.16

 
 

TT

560 (18.1)

681 (18.6)

1.03

0.90 to 1.17

 
 

2-df test

    

0.63

 

per allele

  

1.02

0.96 to 1.09

0.57

11q13 - rs614367

    

BRCA1

CC

4,516 (73.2)

4,581 (72.1)

1

  
 

CT

1,511 (24.5)

1,618 (25.5)

1.05

0.98 to 1.14

 
 

TT

146 (2.4)

154 (2.4)

1.07

0.87 to 1.32

 
 

2-df test

    

0.34

 

per allele

  

1.05

0.98 to 1.12

0.15

BRCA2

CC

2,432 (73.6)

2,723 (71.8)

1

  
 

CT

799 (24.1)

983 (26.0)

1.06

0.96 to 1.17

 
 

TT

76 (2.3)

83 (2.2)

0.97

0.72 to 1.30

 
 

2-df test

    

0.54

 

per allele

  

1.03

0.95 to 1.12

0.46

12q24 - rs1292011

    

BRCA1

AA

1,292 (34.3)

1,331 (35.4)

1

  
 

AG

1,825 (48.4)

1,775 (47.3)

0.98

0.89 to 1.07

 
 

GG

653 (17.3)

649 (17.3)

1.01

0.90 to 1.14

 
 

2-df test

    

0.80

 

per allele

  

1.00

0.94 to 1.06

0.99

BRCA2

AA

824 (35.2)

908 (35.9)

1

  
 

AG

1,095 (46.7)

1,225 (48.4)

1.03

0.92 to 1.16

 
 

GG

423 (18.1)

397 (15.7)

0.84

0.72 to 0.99

 
 

2-df test

    

0.03

 

per allele

  

0.94

0.87 to 1.01

0.10

PTHLH - rs10771399

     

BRCA1

AA

4,913 (79.4)

5,221 (82.0)

1

  
 

AG

1,194 (19.3)

1,082 (17.0)

0.87

0.80 to 0.95

 
 

GG

83 (1.3)

65 (1.0)

0.77

0.57 to 1.04

 
 

2-df test

    

1.5 × 10 -3

 

per allele

  

0.87

0.81 to 0.94

3.2 × 10 -4

BRCA2

AA

2,649 (80.0)

3,085 (81.2)

1

  
 

AG

620 (18.7)

679 (17.9)

0.95

0.85 to 1.07

 
 

GG

45 (1.4)

34 (0.9)

0.74

0.47 to 1.15

 
 

2-df test

    

0.31

 

per allele

  

0.93

0.84 to 1.04

0.20

9q31.2 - rs865686

     

BRCA1

TT

2,521 (40.1)

2,640 (41.4)

1

  
 

TG

2,872 (46.4)

2,849 (44.7)

0.95

0.88 to 1.01

 
 

GG

799 (12.9)

880 (13.8)

1.05

0.95 to 1.17

 
 

2-df test

    

0.06

 

per allele

  

1

0.96 to 1.05

0.85

BRCA2

TT

1,277 (38.6)

1,581 (41.6)

1

  
 

TG

1,610 (48.6)

1,717 (45.2)

0.86

0.78 to 0.95

 
 

GG

425 (12.8)

501 (13.2)

0.96

0.84 to 1.11

 
 

2-df test

    

7.3 × 10 -3

 

per allele

  

0.95

0.89 to 1.01

0.10

  1. a Breast Cancer
  2. HR, hazard ratio