Table 2 Lung cancer risk for the carriers of ATM-L2307F (rs56009889) and KIAA0930-Q4X (rs150665432).

From: Protein-altering germline mutations implicate novel genes related to lung cancer development

Outcome

Population

Gene

Genotype

Discovery Dataset

Replication Dataset

Meta-analysis#

No.

Adjusteda

No.

Adjusteda

Control

Case

OR (95% CI)

P

Control

Case

OR (95% CI)

P

OR (95% CI)

P

lung cancer

All

ATM

CC

13005

15767

1

 

5331

4891

1

   
   

TC

18

77

3.79 (2.2–6.6)

2.57E−06

15

19

1.31 (0.65–2.65)

0.45

2.52 (1.63–3.91)

3.18E−05

   

TT

0

5

Inf (0.8–Inf)

0.068*

0

0

–

–

–

–

   

TC + TT

18

82

4.19 (2.4–7.3)

3.56E−07

15

19

1.31 (0.65–2.65)

0.45

2.7 (1.75–4.16)

7.82E−06

   

Trend

   

2.45E−07

     

–

lung cancer

Female

ATM

CC

5096

5777

1

 

2475

2203

1

   
   

TC

4

41

7.67 (2.6–22)

0.0002

5

15

3.22 (1.12–9.21)

0.03

4.94 (2.34–10.5)

2.92E−05

   

TT

0

1

Inf (0–Inf)

0.49*

0

0

–

–

–

–

   

TC + TT

4

42

7.76 (2.7–22)

0.0002

5

15

3.22 (1.12–9.21)

0.03

4.97 (2.35–10.5)

2.67E−05

   

Trend

   

0.0002

     

–

LAD

All

ATM

CC

13005

6267

1

 

5331

2139

1

   
   

TC

18

61

4.68 (2.7–8.2)

7.92E−08

15

18

2.48 (1.22–5.04)

0.01

3.66 (2.36–5.69)

7.93E−09

   

TT

0

5

Inf (1.9–Inf)

0.004*

0

0

–

–

–

–

   

TC + TT

18

66

5.23 (3–9.2)

6.47E−09

15

18

2.48 (1.22–5.04)

0.01

3.93 (2.53–6.1)

9.96E−10

   

Trend

   

5.44E−09

     

–

LAD

Female

ATM

CC

5096

2923

1

 

2475

1186

1

   
   

TC

4

32

7.91 (2.7–23)

0.0002

5

14

4.69 (1.65–13.4)

0

6.05 (2.86–12.79)

2.48E−06

   

TT

0

1

Inf (0–Inf)

0.36*

0

0

–

–

–

–

   

TC + TT

4

33

8.05 (2.8–23)

0.0001

5

14

4.69 (1.65–13.4)

0

6.1 (2.89–12.9)

2.14E−06

   

Trend

   

0.0001

     

–

lung cancer

All

KIAA0930

GG

12642

14814

1

 

5308

4861

1

   
   

AG

126

355

2.41 (2–3)

7.83E−16

32

47

1.69 (1.05 -2.7)

0.03

2.27 (1.87–2.75)

1.9E-16

   

AA

0

29

Inf (6.3—Inf)

2.29E−08*

0

0

–

–

–

–

   

AG + AA

126

384

2.59 (2.1–3.2)

1.15E−18

32

47

1.69 (1.05 -2.7)

0.03

2.41 (1.99–2.92)

3.9E-19

   

Trend

   

1.51E−19

     

–

  1. aAdjusted for age at diagnosis/interview, gender, smoking status and PCs. #Fixed-effects meta-analysis adjusted for age at diagnosis/interview, gender, smoking status and PCs.
  2. *Values were generated from two-sided Fisher’s Exact Test. OR, 95% CI and P values generated from logistic regression model.
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