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Table 2 SNP allele frequencies compared with frequencies from literature

From: Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years

Marker

Minor Allele

Group*

Call rate

Genotype Frequency [%]§

Allele Frequency [%]

    

n

0

1

2

 

95% CI

pub.**

CYP1A1(VAL462ILE)

G

P

91%

217

93

7

0

3

3–4

2 [57]

  

C

 

212

92

8

0

4

3–4

 

GSTP1(A-193C)

G

P

94%

221

43

45

12

34

32–36

30 [58]

  

C

 

218

43

49

8

32

30–34

 

EPHX1(His113Tyr)

C

P

96%

233

55

38

7

26

25–28

32 [57]

  

C

 

219

49

43

8

29

28–31

 

EPHX1(Arg139His)

G

P

86%

191

68

29

4

18

17–20

22 [57]

  

C

 

208

69

27

3

17

16–18

 

NAT2(Thr114Ile)

C

P

94%

222

34

51

15

41

39–43

46 [57]

  

C

 

218

31

55

14

42

39–44

 

NAT2(Gln197Arg)

A

P

95%

229

50

44

7

28

27–30

29 [57]

  

C

 

218

50

41

10

30

28–32

 

XPD(Asp312Asn)

A

P

92%

221

39

45

15

38

36–40

33 [49]

  

C

 

209

37

45

18

40

38–42

 

XRCC1(Arg280His)

A

P

94%

232

91

9

1

5

5–6

3 [59]

  

C

 

211

90

10

0

5

5–6

 

XRCC1(Arg399Gln)

A

P

86%

197

43

44

13

35

33–38

38 [59]

  

C

 

204

43

45

12

34

32–37

 

GPX1(Pro200Leu)

T

P

85%

186

61

34

5

22

20–24

31 [60]

  

C

 

207

47

43

10

31

29–33

 

p53(Arg72Pro) §§

C

P

87%

201

56

34

10

27

25–29

33 [61]

  

C

 

204

56

38

6

25

23–27

 
  1. * P: patients, C: controls
  2. ** published allele frequency within Caucasian populations [reference]
  3. § 0. homozygous wildtype allele, 1. heterozygous, 2. homozygous for predisposing allele
  4. §§ Only the distribution of genotypes of p53(Arg72Pro) in cases (P) differed significantly from HWE (p = 0.0384, likelihood ratio test)