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Table 4 Genotype distributions of 24 candidate modifier SNPs and hazard ratio estimates for BRCA2 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

0.96

0.73 to 1.26

0.93

0.41 to 2.10

0.96

0.76 to 1.20

0.713

rs3808814

ABL1

A

0.09

0.72

0.51 to 1.02

0.50

0.17 to 1.42

0.71

0.53 to 0.97

0.030

rs1889532

ARHGEF2

G

0.25

1.32

1.05 to 1.67

0.99

0.64 to 1.54

1.13

0.95 to 1.33

0.172

rs10242920

ELMO1

A

0.24

1.01

0.79 to 1.30

0.86

0.52 to 1.43

0.97

0.80 to 1.17

0.747

rs6964474

ELMO1

C

0.22

1.09

0.86 to 1.40

1.47

0.89 to 2.45

1.15

0.95 to 1.39

0.153

rs2541095

ELMO1

G

0.12

1.04

0.8 to 1.35

0.72

0.27 to 1.94

1.00

0.78 to 1.26

0.971

rs6956864

ELMO1

G

0.41

0.76

0.48 to 1.18

2.20

0.16 to 29.7

0.78

0.50 to 1.22

0.279

rs1559949

HNRPDL

G

0.14

1.29

0.96 to 1.72

2.06

0.99 to 4.28

1.33

1.04 to 1.70

0.021

rs4285076

HNRPDL

A

0.29

0.86

0.67 to 1.09

1.47

0.95 to 2.26

1.03

0.85 to 1.25

0.737

rs4787956

IL4R

G

0.34

1.10

0.87 to 1.41

1.31

0.90 to 1.91

1.13

0.95 to 1.35

0.167

rs16976728

IL4R

A

0.38

1.16

0.91 to 1.48

1.38

0.95 to 1.99

1.17

0.98 to 1.39

0.075

rs480092

LSM2

G

0.16

0.92

0.72 to 1.18

1.09

0.55 to 2.16

0.96

0.78 to 1.19

0.735

rs2253820

PER1

A

0.17

0.85

0.70 to 1.02

1.13

0.68 to 1.87

0.90

0.77 to 1.06

0.209

rs4888201

PLCG2

A

0.16

0.98

0.75 to 1.27

1.16

0.54 to 2.52

1.01

0.80 to 1.27

0.964

rs10514519

PLCG2

A

0.18

0.85

0.66 to 1.09

1.92

0.95 to 3.88

0.99

0.79 to 1.24

0.933

rs4997772

PLCG2

A

0.39

1.21

0.95 to 1.55

1.26

0.89 to 1.78

1.14

0.97 to 1.34

0.107

rs3936112

PLCG2

A

0.39

0.91

0.76 to 1.09

0.94

0.73 to 1.22

0.96

0.85 to 1.08

0.483

rs4254419

PLD3

A

0.15

0.95

0.73 to 1.22

0.74

0.36 to 1.51

0.92

0.74 to 1.14

0.448

rs10758

SLC20A1

G

0.26

1.12

0.88 to 1.42

1.11

0.67 to 1.84

1.08

0.90 to 1.30

0.388

rs3825977

SMAD3

A

0.20

1.10

0.91 to 1.33

1.83

1.23 to 2.73

1.20

1.03 to 1.40

0.018

rs7166081

SMAD3

G

0.24

1.17

0.97 to 1.42

1.74

1.21 to 2.49

1.25

1.07 to 1.45

0.004

rs3777663

THEM2

G

0.24

0.95

0.75 to 1.21

1.11

0.69 to 1.79

0.99

0.82 to 1.20

0.945

rs2075642

TOMM40

A

0.20

1.14

0.89 to 1.46

1.19

0.68 to 2.09

1.12

0.92 to 1.37

0.267

rs12211125

VNN2 /VNN3

G

0.09

1.01

0.81 to 1.26

1.31

0.49 to 3.56

1.02

0.83 to 1.26

0.818

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