Table 2 Logistic regression analysis of the combined datasets; G396D analysis was conducted for individuals that were Y179C AA; Y179C analysis was conducted for individuals that were G396D GG; combined genotype analysis was conducted for individuals with data for both Y179C and G396D

From: A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

   

Model I*,a

Model I b

Gene

Cases

Controls

OR

95% CI

P -value

OR

95% CI

P -value

G396D c

Whole sample

GG

19 767

14 723

1.00

     

GA

292

210

1.04

0.87, 1.24

0.70

   

AA

31

0

23.09

3.15, 169.15

0.002

46.93

2.87, 766.89

0.007

 ⩽55 Years old

GG

6269

5270

1.00

     

GA

88

77

0.96

0.71, 1.31

0.80

   

AA

13

0

10.93

1.43, 83.57

0.02

22.70

1.35, 381.91

0.03

 >55 Years old

GG

13 498

9453

1.00

     

GA

204

133

1.07

0.86, 1.34

0.52

   

AA

18

0

12.60

1.68, 94.37

0.01

25.91

1.56, 430.03

0.02

 Males

GG

11 229

6460

1.00

     

GA

161

95

0.98

0.76, 1.26

0.85

   

AA

15

0

8.62

1.14, 65.25

0.04

17.84

1.07, 298.11

0.04

 Females

GG

8528

8259

1.00

     

GA

131

115

1.10

0.86, 1.42

0.45

   

AA

16

0

15.49

2.05, 116.86

0.008

31.96

1.92, 532.72

0.02

Y179C d

 Whole sample

AA

19 767

14 723

1.00

     

AG

122

68

1.34

1.00, 1.80

0.05

   

 GG

11

2

4.10

0.91, 18.48

0.07

NA

  

 ⩽55 Years old

AA

6269

5270

1.00

     

AG

35

25

1.18

0.70, 1.97

0.54

   

GG

9

0

7.57

0.96, 59.74

0.06

15.97

0.93, 274.491

0.06

 >55 Years old

AA

13 498

9453

1.00

     

AG

87

43

1.42

0.98, 2.04

0.06

   

 GG

2

2

0.70

0.10, 4.97

0.72

NA

  

 Males

AA

11 229

6460

1.00

     

AG

68

23

1.70

1.06, 2.73

0.03

   

GG

8

0

4.60

0.58, 36.80

0.15

9.78

0.56, 169.48

0.12

 Females

AA

8528

8259

1.00

     

AG

54

45

1.16

0.78, 1.73

0.46

   

GG

3

2

1.45

0.24, 8.70

0.68

NA

  

Genotype e

 Whole sample

WW

19 767

14 723

1.00

     

WM

418

280

1.11

0.95, 1.29

0.17

   

MM

76

2

28.30

6.95, 115.26

3.1 × 10−6

NA

  

G396D AA

31

0

23.09

3.15, 169.15

0.002

46.93

2.87, 766.89

0.007

Y179C GG

11

2

4.10

0.91, 18.48

0.07

NA

  

Compound heterozygousf

29

0

21.60

2.94, 158.58

0.003

43.95

2.69, 719.26

0.008

 ⩽55 Years old

WW

6269

5270

1.00

     

WM

124

104

1.00

0.77, 1.30

0.99

   

MM

43

0

36.15

4.98, 262.57

0.0004

73.14

4.50, 1188.3

0.003

G396D AA

13

0

10.93

1.43, 83.57

0.02

22.70

1.35, 381.91

0.03

Y179C GG

9

0

7.57

0.96, 59.74

0.06

15.97

0.93, 274.49

0.06

Compound heterozygous

17

0

14.29

1.90, 107.42

0.01

29.42

1.77, 489.38

0.02

 >55 Years old

WW

13 498

9453

1.00

     

WM

294

176

1.17

0.97, 1.41

0.10

   

MM

33

2

11.56

2.77, 48.17

0.001

NA

  

G396D AA

18

0

12.60

1.68, 94.37

0.01

25.91

1.56, 430.03

0.02

Y179C GG

2

2

0.70

0.10, 4.97

0.72

NA

  

Compound heterozygous

12

0

8.40

1.09, 64.64

0.04

17.51

1.04, 295.75

0.05

 Males

WW

11 229

6460

1.00

     

WM

232

119

1.12

0.90, 1.40

0.31

   

MM

36

0

20.71

2.84, 151.09

0.003

42.00

2.58, 684.38

0.009

G396D AA

15

0

8.62

1.14, 65.25

0.04

17.84

1.07, 298.11

0.04

Y179C GG

8

0

4.60

0.58, 36.80

0.15

9.78

0.56, 169.48

0.12

Compound heterozygous

12

0

6.90

0.90, 53.10

0.06

14.38

0.85, 242.96

0.06

 Females

WW

8528

8259

1.00

     

WM

186

161

1.12

0.90, 1.38

0.30

   

MM

40

2

19.37

4.68, 80.17

4.3 × 10−5

NA

  

G396D AA

16

0

15.49

2.05, 116.86

0.008

31.96

1.92, 532.72

0.02

Y179C GG

3

2

1.45

0.24, 8.70

0.68

NA

  

Compound heterozygous

17

0

16.46

2.19, 123.70

0.006

33.90

2.04, 563.74

0.01

  1. Abbreviations: CI=confidence interval; MM=mutated/mutated; NA=not available; OR=odds ratio; WM=wild type/mutant; WW=wild type/wild type.
  2. *Crude analysis.
  3. aEstimated by adding one control with the variant genotype.
  4. bEstimated using the meta command of STATA and for mathematical reasons, cells with zero frequencies were assumed to be 0.5 (as defaulted by the meta command).
  5. cAnalysis conducted only for the AA Y179C, that is, WW.
  6. dAnalysis conducted only for the GG G396D, that is, WW.
  7. eIncluding subjects with data for both Y179C and G396D.
  8. fThis category includes 29 G396D GA and Y179C AG cases; 5 cases with either G396D GA or Y179C AG and any other pathogenic MUTYH mutation were excluded.
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