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Table 3 Summary of SNP associations with recurrence-free and overall survival

From: Melanoma risk loci as determinants of melanoma recurrence and survival

A. Survival association results from genetic univariate Cox proportional hazards models.

SNP

Locus

Gene

prior GWAS associations

MAF

Genotype

Recurrence-free survival

Overall survival

      

HR

95% CI

P

HR

95% CI

P

rs966321

1p36.32

-

Tanning; β = -.14, p = 1e-9

0.49

AA

Ref

  

Ref

  
     

CA

0.82

0.62-1.08

 

0.76

0.52-1.09

 
     

CC

0.61

0.43-0.88

0.02

0.71

0.45-1.12

0.23

     

Additive

0.79

0.66-0.94

0.007

0.83

0.66-1.05

0.11

rs7538876

1p36.13

Near RCC2

BCC; OR = 1.28, p = 4e-12

0.32

GG

Ref

  

Ref

  
     

AG

1.09

0.83-1.43

 

0.97

0.68-1.38

 
     

AA

1.69

1.18-2.43

0.02

1.09

0.67-1.77

0.89

     

Additive

1.25

1.04-1.50

0.01

1.03

0.81-1.29

0.83

rs10861741

12q23.3

BTBD11

Hair; β = .12, p = 1e-4

0.15

CC

Ref

  

Ref

  
     

TC

0.91

0.68-1.21

 

0.60

0.39-0.91

 
     

TT

0.13

0.02-0.94

0.01

0.31

0.04-2.20

0.01

     

Additive

0.78

0.60-1.01

0.06

0.59

0.40-0.87

0.008

rs154659

16q24.3

Near MC1R

Tanning; β = .14, p = 7e-8

0.28

TT

Ref

  

Ref

  
     

CT

1.18

0.90-1.53

 

0.97

0.69-1.37

 
     

CC

1.84

1.21-2.79

0.02

1.14

0.63-2.05

0.88

     

Additive

1.29

1.06-1.56

0.009

1.03

0.80-1.32

0.84

rs7188458

16q24.3

Near MC1R

CM; OR = 1.3, p = 1e-12

0.44

GG

Ref

  

Ref

  
   

Tanning; β = .13, p = 8e-7

 

AG

1.54

1.13-2.10

 

1.43

0.95-2.15

 
   

Hair; β = .16, p = 4e-12

 

AA

1.29

0.88-1.89

0.01

1.04

0.62-1.75

0.12

     

Additive

1.15

0.96-1.37

0.12

1.04

0.82-1.31

0.76

rs9960018

18p11.31

DLGAP1

Tanning; β = -.15, p = 1e-5

0.12

CC

Ref

  

Ref

  
     

TC

1.29

0.96-1.75

 

1.63

1.13-2.36

 
     

TT

1.83

0.90-3.72

0.09

1.65

0.67-4.06

0.03

     

Additive

1.32

1.03-1.68

0.02

1.47

1.10-1.96

0.009

rs6088520

20q11.22

Near

CM; OR = .86, p = .02

0.49

CC

Ref

  

Ref

  
  

MAP1LC3A

  

TC

0.80

0.60-1.07

 

0.92

0.63-1.34

 
     

TT

0.61

0.42-0.87

0.02

0.68

0.42-1.09

0.22

     

Additive

0.78

0.65-0.93

0.006

0.83

0.66-1.04

0.10

B. Survival association results from multivariable Cox proportional hazards models.

rs7538876

1p36.13

Near RCC2

BCC; OR = 1.28, p = 4e-12

0.32

GG

Ref

  

Ref

  
     

AG

1.25

0.90-1.72

 

1.38

0.68-2.83

 
     

AA

2.41

1.58-3.68

0.0002†

1.49

0.43-5.19

0.61

     

Additive

1.48

1.20-1.83

0.0005‡

1.08

0.82-1.41

0.60

rs12913832

15q13.1

HERC2

Tanning; β = -.19, p = 1e-10

0.36

GG

Ref

  

Ref

  
   

Hair; β = -.44, p = 9e-78

 

AG

0.79

0.58-1.09

 

0.55

0.26-1.15

 
   

CM; OR = 0.69, p = 4e-8

 

AA

0.55

0.34-0.86

0.02

0.29

0.09-1.01

0.05

     

Additive

0.75

0.61-0.93

0.007

0.75

0.56-0.98

0.03

rs7188458

16q24.3

Near MC1R

CM; OR = 1.3, p = 1e-12

0.44

GG

Ref

  

Ref

  
   

Tanning; β = .13, p = 8e-7

 

AG

1.52

0.97-2.37

 

1.05

0.45-2.45

 
   

Hair; β = .16, p = 4e-12

 

AA

1.85

1.26-2.70

0.005

1.39

0.50-3.81

0.78

     

Additive

1.23

1.01-1.52

0.04

1.12

0.84-1.48

0.44

rs7195066

16q24.3

FANCA/

Hair; β = -.11, p = 2e-6

0.27

CC

Ref

  

Ref

  
  

Near MC1R

  

TC

1.47

1.08-2.01

 

1.71

0.85-3.46

 
     

TT

1.03

0.60-1.77

0.04

0.46

0.05-3.90

0.16

     

Additive

1.16

0.94-1.43

0.17

0.98

0.75-1.30

0.91

rs9960018

18p11.31

DLGAP1

Tanning; β = -.15, p = 1e-5

0.12

CC

Ref

  

Ref

  
     

TC

1.17

0.82-1.68

 

1.59

0.71-3.58

 
     

TT

3.73

1.76-7.87

0.01

4.86

1.24-19.0

0.09

     

Additive

1.43

1.07-1.91

0.01

1.52

1.09-2.12

0.01

rs6088520

20q11.22

Near

CM; OR = .86, p = .02

0.50

CC

Ref

  

Ref

  
  

MAP1LC3A

  

TC

0.75

0.53-1.07

 

0.59

0.27-1.30

 
     

TT

0.55

0.35-0.85

0.02

0.58

0.22-1.51

0.36

     

Additive

0.74

0.59-0.92

0.007

0.90

0.68-1.19

0.46

  1. A) Results from the univariate Cox proportional hazards model. B) Results from the multivariate Cox proportional hazards model stratified by stage and adjusted by age, gender, ethnicity, tumor thickness, ulceration status, anatomic site, and histological type. Shown in bold are associations remaining significant after Bonferroni correction based on the number of independent tests (n = 64). Associations with melanoma and melanoma related host phenotypes observed in prior GWAS studies are also listed for each SNP.
  2. † Bonferroni adjusted p-value = 0.01. ‡ Bonferroni adjusted p-value = 0.03.
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Journal of Translational Medicine

ISSN: 1479-5876

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