Table 2.
Genome-wide significant association with keratoconus (data shown in chronological order)
| Gene | Population | Discovery/replication cohort case/control | SNPs | p value | Meta p value | Genotyping methods | References |
|---|---|---|---|---|---|---|---|
| (a) Genes identified in GWAS as associated with keratoconus | |||||||
| HGF | Australian Northern Ireland |
97/216 | rs3735520 rs17501108/rs1014091 |
0.002 0.0002 |
9.9 × 10−7
9.9 × 10−5 |
IluminaHumanHap 1 M | Burdon et al. (2011) |
| HGF | Caucasian (US) | 222/3324 | rs3735520 rs17501108/rs1014091 |
6.1 × 10−7
0.018 |
9.9 × 10−7
9.9 × 10−5 |
Illumina HumanCNV370-Quad BeadChip Illumina iSelect Infinium |
Burdon et al. (2011) |
| RAB3GAP1 | Caucasian (US) | 222/3324 | rs4954218 | 2.6 × 10−4 | 1.6 × 10−7 | Illumina HumanCNV370-Quad BeadChip Illumina iSelect Infinium |
Li et al. (2012) |
| LOX | Caucasian (US) | 222/3324 | rs10519694 rs2956540 |
2.3 × 10−3
7 × 10−3 |
4.0 × 10−5
7.7 × 10−4 |
Illumina HumanCNV370-Quad BeadChip Illumina iSelect Infinium |
Bykhovskaya et al. (2012) |
| FOXO1 | Australian/Caucasian (US) | 874/6085 | rs2721051 | 2.7 × 10−10 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| FNDC3B | Australian/Caucasian (US) | 874/6085 | rs4894535 | 4.9 × 10−9 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| RXRA-COL5A1 | Australian/Caucasian (US) | 874/6085 | rs1536482 | 2.6 × 10−7 | - | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| MPDZ-NF1B | Australian/Caucasian (US) | 874/6085 | rs1324183 | 5.2 × 10−6 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| COL5A1 | Australian/Caucasian (US) | 874/6085 | rs7044529 | 8 × 10−6 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| BANP-ZNF469 | Australian/Caucasian (US) | 874/6085 | rs9938149 | 1.9 × 10−4 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip Illumina HumanCNV370-Quad BeadChip |
Lu et al. (2013) |
| COL5A1 | Caucasian (US) | 222/3324 | rs1536482 rs7044529 |
6.5 × 10−3
7.4 × 10−3 |
1.5 × 10−4
2.9 × 10−3 |
Illumina HumanCNV370-Quad BeadChip Illumina iSelect Infinium |
Li et al. (2013a) |
| (b) Genes identified in GWAS as associated with keratoconus and replicated in independent studies | |||||||
| RAB3GAP1 | Australian Caucasian | 524/2761 | rs4954218 | 9.26 × 10−9 | – | Sequenom Autoflex MassArray Illumina HumanHap610-Quad BeadChip |
Bae et al. (2013) |
| MPDZ-NF1B | Australian Caucasian | 157/673 | rs1324183 | 0.001 | – | Sequenom Autoflex MassArray | Sahebjada et al. (2013) |
| BANP-ZNF469 | Australian Caucasian | 157/673 | rs9938149 | 0.010 | – | Sequenom Autoflex MassArray | Sahebjada et al. (2013) |
| HGF | Australian Caucasian | 157/673 | rs2286194 | 1.1 × 10−3 | – | Sequenom Autoflex MassArray | Sahebjada et al. (2014) |
| LOX | Iranian | 112/150 | rs1800449 | 0.012 | – | Allele-specific PCR | Hasanian-Langroudi et al. (2015) |