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Table 3 Genotype distributions of 24 candidate modifier SNPs and hazard ratio estimates for BRCA1 mutation carriers

From: Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2mutation carriers

SNP

Gene

Minor allele

MAF

Heterozygous

Homozygous

Per allele

P trend

    

HR

95% CI

HR

95% CI

HR

95% CI

 

rs7026988

ABL1

A

0.12

1.08

0.88 to 1.34

1.61

0.82 to 3.15

1.13

0.93 to 1.36

0.212

rs3808814

ABL1

A

0.09

0.90

0.72 to 1.14

0.65

0.22 to 1.91

0.89

0.72 to 1.10

0.284

rs1889532

ARHGEF2

G

0.25

0.99

0.83 to 1.18

1.12

0.80 to 1.56

1.03

0.90 to 1.18

0.708

rs10242920

ELMO1

A

0.24

1.06

0.89 to 1.27

1.61

1.12 to 2.32

1.16

1.00 to 1.33

0.043

rs6964474

ELMO1

C

0.22

1.08

0.90 to 1.29

0.71

0.49 to 1.02

0.96

0.84 to 1.10

0.568

rs2541095

ELMO1

G

0.12

1.03

0.84 to 1.27

1.12

0.48 to 2.63

1.04

0.86 to 1.26

0.683

rs6956864

ELMO1

G

0.41

1.04

0.76 to 1.42

1.35

0.18 to 10.03

1.05

0.78 to 1.42

0.755

rs1559949

HNRPDL

G

0.14

0.78

0.65 to 0.94

0.91

0.51 to 1.64

0.82

0.70 to 0.97

0.022

rs4285076

HNRPDL

A

0.29

0.95

0.80 to 1.12

1.00

0.73 to 1.37

0.98

0.86 to 1.11

0.746

rs4787956

IL4R

G

0.34

0.99

0.83 to 1.18

1.11

0.84 to 1.46

1.03

0.91 to 1.17

0.611

rs16976728

IL4R

A

0.38

0.92

0.77 to 1.10

1.07

0.82 to 1.39

1.00

0.88 to 1.13

0.978

rs480092

LSM2

G

0.16

1.25

1.04 to 1.51

1.30

0.81 to 2.08

1.21

1.04 to 1.42

0.015

rs2253820

PER1

A

0.17

1.02

0.9 to 1.16

0.72

0.52 to 1.00

0.96

0.87 to 1.06

0.412

rs4888201

PLCG2

A

0.16

1.10

0.91 to 1.34

1.39

0.77 to 2.51

1.13

0.95 to 1.33

0.168

rs10514519

PLCG2

A

0.18

1.06

0.88 to 1.28

1.59

0.92 to 2.75

1.11

0.95 to 1.31

0.195

rs4997772

PLCG2

A

0.39

1.13

0.95 to 1.35

1.07

0.84 to 1.37

1.05

0.94 to 1.18

0.377

rs3936112

PLCG2

A

0.39

0.98

0.87 to 1.10

0.97

0.82 to 1.16

0.98

0.91 to 1.07

0.700

rs4254419

PLD3

A

0.15

0.98

0.81 to 1.18

0.87

0.50 to 1.52

0.96

0.82 to 1.13

0.648

rs10758

SLC20A1

G

0.26

0.98

0.82 to 1.17

0.95

0.68 to 1.33

0.98

0.85 to 1.12

0.729

rs3825977

SMAD3

A

0.20

0.98

0.88 to 1.11

0.94

0.71 to 1.24

0.98

0.89 to 1.07

0.638

rs7166081

SMAD3

G

0.24

0.98

0.87 to 1.11

1.03

0.80 to 1.33

1.00

0.91 to 1.10

0.995

rs3777663

THEM2

G

0.24

1.02

0.86 to 1.22

1.17

0.84 to 1.63

1.05

0.92 to 1.20

0.453

rs2075642

TOMM40

A

0.20

0.97

0.81 to 1.16

1.06

0.69 to 1.63

0.99

0.86 to 1.15

0.931

rs12211125

VNN2/VNN3

G

0.09

0.96

0.83 to 1.11

1.19

0.73 to 1.94

0.99

0.87 to 1.12

0.882

  1. MAF, minor allele frequency; HR, hazard ratio; CI, confidence interval.
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Breast Cancer Research

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