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. 2017 Jul 4;7:4620. doi: 10.1038/s41598-017-04393-2

Table 1.

Characteristics of eligible studies for the 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

*A small number of forme fruste Keratoconus was not excluded.

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.

CG = candidate gene association study; GWAS = genome-wide association study; KCN = keratoconus; HWE = Hardy Weinberg equilibrium; PCs = principle components; n.r. = not reported.