Table 1.
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.