Table 1 Characteristics of eligible studies for the meta-analysis.

From: Genetic associations for keratoconus: a systematic review and meta-analysis

No.

First author (year)

Country

Ethnicity

Study design

Age

Sex (% Female)

Sample size

Gene and locus

Test for HWE

Case

Control

Case

Control

Case

Control

1

Abu-Amero, K. K.40

Saudi Arabia

Arabic

CG

28 ± 7

n.r.

0.54

n.r.

108

300

BANP-ZNF469, and 6 loci

In HWE

2

Dudakova, L.39

Czech

Whites

CG

37 ± 13

40 ± 14

0.35

0.41

165

193

HGF and LOX

In HWE

3

Hao, X. D.56

China

Chinese

CG

21 ± 6

27 ± 11

0.14

0.24

210

191

HGF, LOX, and 6 loci

In HWE

4

Hasanian-Langroudi, F.38

Iran

Arabic

CG

30 ± 13

30 ± 16

0.50

0.56

112

150

LOX

In HWE

5

Saravani, R.37

Iran

Arabic

CG

30 ± 13

30 ± 16

0.50

0.56

112

150

COL4A4

In HWE

6

Kokolakis, N. S.43

Greece

Whites

CG

33 ± 14

43 ± 16

0.38

0.44

45

78

COL4A3 and COL4A4

In HWE

7

Karolak, J. A.44

Poland

Whites

CG

22–67

13–83

0.33

0.52

42

50

VSX1

n.r.

8

Sahebjada, S.41

Australia

Whites

CG

38 ± 16

53 ± 15

0.41

0.61

157

673

HGF

In HWE

9

Palamar, M.42

Turkey

Turkish

CG

25 ± 5

34 ± 12

0.54

0.51

121

121

IL1B & IL1RN

In HWE

10

Bae, H. A.49*

Australia

Whites

CG

43 ± 15

70 ± 10

0.45

0.43

524

2,761

12p13.3 and 11 loci

In HWE

11

Li, X.55

USA-1

Whites

C

44 ± 13

72 ± 5

0.45

0.61

222

3,324

COL5A1

n.r.

USA-2

Whites

CG

43 ± 16

45 ± 14

0.32

0.48

304

518

COL5A1

n.r.

12

Sahebjada, S.47

Australia

Whites

CG

38 ± 16

53 ± 15

0.41

0.61

157

673

BANP-ZNF469 and 4 loci

In HWE

13

Mikami, T.48

Japan

Japanese

CG

34 ± 10

33 ± 10

0.24

0.25

169

390

IL1A and IL1B

In HWE

14

Verma, A.46

India

Indian

CG

23 ± 6

25 ± 9

0.41

0.75

117

108

VSX1

n.r.

15

Lu, Y.23

Australia

Whites

GWAS

n.r.

n.r.

n.r.

n.r.

652

2,761

BANP-ZNF469 and 4 loci

n.r.

USA

Whites

CG

n.r.

n.r.

n.r.

n.r.

222

3,324

BANP-ZNF469 and 4 loci

n.r.

16

Wang, Y.45

China

Chinese

CG

21 ± 6

22 ± 5

0.36

0.53

97

101

COL4A3 and 4 loci

In HWE

17

Bykhovskaya, Y.22

USA-1

Whites

CG

44 ± 13

72 ± 5

0.45

0.61

222

3,324

LOX

n.r.

USA-2

Whites

CG

43 ± 16

45 ± 14

0.32

0.48

304

518

LOX

n.r.

18

Li, X.24

USA-1

Whites

GWAS

44 ± 13

72 ± 5

0.45

0.61

222

3,324

12p13.3 and 11 loci

In HWE

USA-2

Whites

CG

43 ± 16

45 ± 14

0.32

0.48

304

518

12p13.3 and 11 loci

In HWE

19

Burdon, K. P.21

Australia

Whites

CG

48 ± 16

77 ± 9

0.53

0.29

97

216

HGF

n.r.

Australia

Whites

CG

43 ± 15

73 ± 11

0.39

0.10

96

72

HGF

n.r.

Australia

Whites

CG

41 ± 15

72 ± 9

0.39

0.50

215

112

HGF

n.r.

USA-1

Whites

CG

44 ± 13

72 ± 5

0.45

0.61

222

3,324

HGF

n.r.

USA-2

Whites

CG

43 ± 16

45 ± 14

0.32

0.48

304

518

HGF

n.r.

20

Stabuc-Silih, M.50

Slovenia

Whites

CG

39 ± 10

n.r.

0.38

n.r.

113

100

COL4A3 and COL4A4

n.r.

21

Stabuc-Silih, M.51

Slovenia

Whites

CG

39 ± 10

n.r.

0.38

n.r.

113

100

VSX1

n.r.

22

Stabuc-Silih, M.52

Slovenia

Whites

CG

39 ± 8

37 ± 10

0.38

0.36

104

157

COL4A3 and COL4A4

In HWE

23

Kim, S. H.54

Korea

Korean

CG

18–33

n.r.

n.r.

n.r.

100

100

IL1A and 2 loci

In HWE

24

Mok, J. W.53

Korea

Korean

CG

n.r.

n.r.

n.r.

n.r.

249

208

VSX1

In HWE

  1. *A small number of forme fruste Keratoconus was not excluded.
  2. BANP-ZNF469 = BTG3 associated nuclear protein-zinc finger protein 469; COL4A3 = collagen, type IV, alpha 3; COL4A4 = collagen, type IV, alpha 4; COL5A1 = collagen, type V, alpha 1; HGF = hepatocyte growth factor; IL1A = interleukin 1, alpha; IL1B = interleukin 1, beta; IL1RN = interleukin 1 receptor antagonist; LOX = lysyl oxidase; VSX1 = visual system homeobox 1.
  3. CG = candidate gene association study; GWAS = genome-wide association study; KCN = keratoconus; HWE = Hardy Weinberg equilibrium; PCs = principle components; n.r. = not reported.