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Table 1 Meta-analysis results, odds ratios with corresponding 95% confidence intervals, heterogeneity metrics (P Q, I 2) and significance of the differential magnitude of effect in large versus small studies (P H) for allele contrast and dominant and recessive modelsa

From: Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system

Gene

Study type

Population

Studies (n)

Cases/Controls (n)

OR (95% CI)

I 2(%) (P Qvalue)

P H

COL1A1 G2046T

Allele contrast

All

33

7,308/10,128

1.65 (1.39-1.94)

69 (<0.01)

0.01

  

All in HWE

31

6,660/8,968

1.68 (1.41-2.01)

70 (<0.01)

0.01

  

Caucasians

28

6,896/9,645

1.47 (1.29-1.68)

50 (<0.01)

<0.01

  

Adults

32

7,234/9,944

1.54 (1.33-1.78)

57 (<0.01)

0.01

  

Female

21

5,942/8,104

1.37 (1.20-1.57)

40 (0.03)

0.05

  

Postmenopausal

14

4,185/5,722

1.34 (1.14-1.58)

41 (0.06)

0.53

  

Male

5

706/1,298

1.85 (1.09-3.14)

55 (0.06)

0.81

 

Recessive model

All

33

3,661/5,071

2.37 (1.78-3.16)

16 (0.21)

0.26

  

All in HWE

31

3,337/4,491

2.37 (1.73-3.25)

20 (0.16)

0.16

  

Caucasians

28

3,592/5,021

2.29 (1.76-3.00)

2 (0.43)

0.08

  

Adults

32

3,661/5,071

2.24 (1.75-2.88)

0 (0.48)

0.18

  

Female

21

3,300/4,373

2.00 (1.52-2.63)

0 (0.54)

0.65

  

Postmenopausal

14

2,496/3,261

1.80 (1.29-2.50)

2 (0.43)

0.85

  

Male

5

757/1,049

5.47 (2.31-12.95)

0 (0.57)

0.11

 

Dominant model

All

35

3,928/5,346

1.60 (1.34-1.91)

64 (<0.01)

0.01

  

All in HWE

31

3,331/4,485

1.67 (1.37-2.03)

65 (<0.01)

0.03

  

Caucasians

30

3,722/5,104

1.43 (1.23-1.65)

46 (<0.01)

<0.01

  

Adults

34

3,891/5,254

1.53 (1.30-1.81)

58 (<0.01)

0.02

  

Female

23

3,245/4,334

1.37 (1.18-1.58)

36 (0.05)

0.02

  

Postmenopausal

15

2,311/3,013

1.33 (1.12-1.58)

33 (0.10)

0.41

  

Male

5

354/650

1.54 (0.81-2.93)

54 (0.07)

0.98

 

Additive model

All

33

2,487/3,658

2.64 (1.93-3.60)

24 (0.11)

0.13

  

All in HWE

31

2,267/3,275

2.68 (1.90-3.78)

28 (0.08)

0.07

  

Caucasians

28

2,447/3,626

2.46 (1.86-3.26)

9 (0.33)

0.03

  

Adults

32

2,487/3,658

2.57 (1.94-3.41)

11 (0.29)

0.03

  

Female

21

2,242/3,159

2.14 (1.59-2.89)

8 (0.35)

0.31

  

Postmenopausal

14

1,694/2,399

1.94 (1.31-2.86)

20 (0.24)

0.55

  

Male

5

547/843

5.18 (2.16-12.42)

0 (0.58)

0.20

 

Codominant

All

49

9,722/22,924

1.17 (1.04-1.31)

69 (<0.01)

0.13

  

All in HWE

31

3,331/4,485

1.33 (1.11-1.60)

57 (<0.01)

0.31

  

Caucasians

44

9,516/22,682

1.12 (1.01-1.26)

68 (<0.01)

0.14

  

Adults

48

9,685/22,832

1.17 (1.04-1.31)

69 (<0.01)

0.13

  

Female

30

7,497/16,464

1.12 (0.99-1.26)

62 (<0.01)

0.38

  

Postmenopausal

15

3,290/6,530

1.16 (0.98-1.37)

36 (0.08)

0.26

  

Male

12

1,896/6,098

1.07 (0.80-1.44)

78 (<0.01)

0.29

COL1A1 G-1997T

Allele contrast

All

3

778/852

1.38 (1.05-1.81)

0 (0.94)

0.11

 

Recessive model

All

3

389/426

1.66 (0.67-4.11)

0 (0.70)

0.95

 

Dominant model

All

3

389/426

1.42 (1.04-1.93)

0 (0.88)

0.53

 

Additive model

All

3

279/330

1.08 (0.72-4.49)

0 (0.73)

0.93

 

Codominant

All

3

389/426

1.36 (0.99-1.87)

0 (0.73)

0.71

COL1A1 -1663T ins/del

Allele contrast

All

3

776/850

1.03 (0.81-1.33)

0 (0.73)

0.14

 

Recessive model

All

3

388/425

1.81 (0.87-3.71)

0 (0.78)

0.11

 

Dominant model

All

3

388/425

0.94 (0.70-1.26)

0 (0.49)

0.09

 

Additive model

All

3

283/295

1.74 (0.84-3.58)

0 (0.86)

0.20

 

Codominant

All

3

388/425

0.82 (0.58-1.15)

12 (0.32)

0.06

COL1A1 MspI 26 kb upstream (mt-/wt+)

Allele contrast

All

2

318/312

1.33 (0.95-1.86)

NA (0.86)

NA

 

Recessive model

All

2

159/156

1.44 (0.69-2.98)

NA (0.51)

NA

 

Dominant model

All

2

159/156

1.43 (0.91-2.23)

NA (0.92)

NA

 

Additive model

All

2

88/94

1.66 (0.78-3.56)

NA (0.50)

NA

 

Codominant

All

2

159/156

1.25 (0.79-1.97)

NA (0.87)

NA

COL1A1 RsaI intron 5 (mt-/wt+)

Allele contrast

All

2

318/312

1.03 (0.37-2.91)

NA (0.01)

NA

 

Recessive model

All

2

159/156

0.85 (0.27-2.66)

NA (0.47)

NA

 

Dominant model

All

2

159/156

1.09 (0.29-4.19)

NA (<0.01)

NA

 

Additive model

All

2

96/103

0.90 (0.23-3.42)

NA (0.25)

NA

 

Codominant

All

2

159/156

1.13 (0.33-3.89)

NA (0.01)

NA

COL1A1 MnII exon 52 (mt-/wt+)

Allele contrast

All

2

318/312

0.77 (0.55-1.07)

NA (0.41)

NA

 

Recessive model

All

2

159/156

0.70 (0.18-2.75)

NA (0.07)

NA

 

Dominant model

All

2

159/156

0.78 (0.50-1.22)

NA (0.84)

NA

 

Additive model

All

2

96/93

0.63 (0.20-2.00)

NA (0.14)

NA

 

Codominant

All

2

159/156

0.95 (0.47-1.93)

NA (0.12)

NA

IGF-I 192 bp CA (mt-/wt+)

Dominant model

All

2

47/136

0.70 (0.15-3.35)

NA (0.03)

NA

ITGB3 T176C

Allele contrast

All

2

534/17,932

1.23 (0.87-1.76)

NA (0.11)

NA

 

Recessive model

All

2

267/8,966

1.88 (1.06-3.33)

NA (0.76)

NA

 

Dominant model

All

2

267/8,966

1.20 (0.76-1.90)

NA (0.09)

NA

 

Additive model

All

2

192/6,517

1.93 (1.09-3.45)

NA (0.58)

NA

 

Codominant

All

2

267/8,966

1.09 (0.68-1.72)

NA (0.10)

NA

  1. aOR, odds ratio; 95% CI, 95% confidence interval; I 2, quantification of heterogeneity; P Q, P-value for heterogeneity; P H, P-value for magnitude of effect in large versus small studies; COL1A1, collagen, type I, α1; NA, not applicable; HWE, Hardy-Weinberg equilibrium; mt, mutant type; wt, wild type; IGF-I, insulin-like growth factor I; ITGB3, integrin β-chain β3.
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