Review Article

Genetics of Keratoconus: Where Do We Stand?

Table 2

Some of the genes reported in keratoconus using different genomic approaches.

GenesMethodPopulationReference

MIR184 LinkageNorthern Irish [30]
DOCK9 LinkageEcuadorian [36]
VSX1 Candidate geneEuropean [49]
ZEB1 Candidate geneEuropean [62]
TGFB1 Candidate geneChinese[64]
COL4A3/COL4A4 Candidate geneEuropean [65]
FLG Candidate geneEuropean [70]
IL1A Candidate geneKorean, Chinese[54, 71]
IL1B Candidate geneKorean, Japanese[71, 72]
CAST Linkage/candidate geneAmericans[73]
SOD1 Candidate geneAmericans [77]
HGF GWASAustralian, Americans [102]
RAB3GAP1 GWASAmericans, Australian [103, 104]
LOX Linkage/GWASAmericans[107]
MPDZ-NFIB, BANP-ZNF469 GWAS/candidate geneEuropean/Asian and Australian[109, 111]
COL5A1 Linkage/GWASAmericans[112]
KRT72 Gene expressionEuropean [114]
TIMP1, TIMP3, BMP4,and CFL1 Gene expressionKorean [74]