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Table 2 Haplotype frequencies (f h ) as derived for DEFB104 MSV rs17843871, rs2680507, rs17843872 and rs4259430 by pooled PCR/cloning and Sanger sequencing

From: Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis

Haplotype

Frequency as determined by pooled PCR/sequencing

Group comparison

 

PDAC

CARLA1

CP

CARLA2

Human genomic pool

PDAC vs CARLA1

CP vs CARLA2

 

No. clones

fh

No. clones

fh

No. clones

fh

No. clones

fh

No. clones

fh

P*

P*

GAGC

224

0.40

286

0.34

310

0.41

391

0.34

413

0.38

0.160

0.061

GGGC

152

0.27

207

0.25

200

0.27

277

0.24

233

0.21

0.540

0.444

GAAT

39

0.07

92

0.11

92

0.12

153

0.13

106

0.10

0.109

0.747

CAGT

60

0.11

65

0.08

63

0.08

91

0.08

62

0.06

0.232

0.813

CAAT

29

0.05

48

0.06

27

0.04

76

0.07

47

0.04

0.773

0.123

CAGC

15

0.03

36

0.04

23

0.03

56

0.05

59

0.05

0.316

0.298

GAGT

22

0.04

28

0.03

9

0.01

41

0.04

54

0.05

0.721

0.079

GAAC

5

0.01

22

0.03

7

0.01

28

0.02

12

0.01

0.136

0.194

GGAT

3

0.01

22

0.03

2

<0.01

14

0.01

27

0.02

0.059

0.217

GGGT

7

0.01

10

0.01

2

<0.01

9

0.01

25

0.02

0.961

0.430

CGGC

6

0.01

5

0.01

2

<0.01

12

0.01

22

0.02

0.547

0.297

CGGT

0

0.00

5

0.01

1

<0.01

3

<0.01

0

0.00

0.163

0.720

GGAC

0

0.00

4

<0.01

0

0.00

0

0.00

6

0.01

0.222

n.a.

CAAC

1

<0.01

2

<0.01

0

0.00

2

<0.01

0

0.00

0.781

0.318

CGAT

1

<0.01

2

<0.01

0

0.00

0

0.00

4

<0.01

0.783

n.a

Total

564

 

834

 

738

 

1.153

 

1.070

 

0.239

0.129

  1. * P values for the comparison of case and control haplotype frequencies were based upon simulations as previously described [33].