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Table 2 Frequencies and counts of RET haplotypes and diplotypes comprising -5G > A, -1A > C, c135G > A, c1296A > G and c2307T > G

From: Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis

Haplotypes a

Patients (246 chromosomes)

Controls (336 chromosomes)

ORb(95% CI); P

(-5; -1; c135; c1296; c2307)

%

numbers

%

numbers

 

G-A-G-A-T

2.4

6

6.0

20

reference b

G-A-G-G-T

8.1

20

25.3

85

0.78 (0.28-2.20);0.641

G-C-G-G-T

1.6

4

8.3

28

0.48 (0.12-1.91); 0.294

A-C-A-A-G

3.3

8

3.6

12

2.22 (0.62-7.97); 0.221

A-C-A-G-T

3.3

8

2.7

9

2.93 (0.78-10.99); 0.111

A-C-A-G-G

72.0

177

34.5

116

5.06 (1.97-12.99); 0.001

Diplotypes

Patients (123 subjects)

Controls (168 subjects)

 

G-A-G-A(G)-T/G-A-G-A(G)-T

2.4

3

7.7

13

reference c

G-A-G-A(G)-T/others d

4.9

6

19.6

33

0.79 (0.17-3.64);0.761

others/others

3.3

4

11.9

20

0.87 (0.17-4.54);0.869

G-A-G-A(G)-T/A-C-A-G-G

11.4

14

27.4

46

1.30 (0.32-5.23); 0.712

others/A-C-A-G-G

23.6

29

25.0

42

2.98 (0.78-11.42); 0.111

A-C-A-G-G/A-C-A-G-G

54.4

67

8.4

14

21.08 (5.28-84.09); < 0.001

  1. a haplotypes with frequencies less than 5% were not shown
  2. b p = 7.33 × 10-17, c p = 3.09 × 10-15, for Cochran-Armitage trend test
  3. d represented not G-A-G-A(G)-T or A-C-A-G-G haplotypes