Table 1.
Published Genome-Wide Significant Single Nucleotide Polymorphism Associations With Open-Angle Glaucoma and Associated Traits
| Locus | SNP (Allele) | Gene | Phenotype | Country | Results | Reference |
|---|---|---|---|---|---|---|
| 1q24 | rs4656461(G) | TMCO1 | Advanced POAG | Australia |
P = 6.1 × 1−10 OR = 1.68 |
Burdon et al7 |
| rs755523(C) | TMCO1 | IOP | Netherlands |
P = 1.6 × 10−8 B = 0.28 |
Van Koolwijk et al16 | |
| 7q31 | rs4236601(A) | CAV1/CAV2 | POAG | Iceland |
P = 5.0 × 10−10 OR = 1.36 |
Thorleifsson et al8 |
| 8q22 | rs1521774(G) | Gene desert | NTG | USA |
P = 1.35 × 10−9 OR = 0.62 |
Wiggs et al9 |
| 9p21 | rs4977756(A) | CDKN2B-AS1 | Advanced POAG | Australia |
P = 4.7 × 10−9 OR = 1.50 |
Burdon et al7 |
| rs1412829(T) | CDKN2B-AS1 | POAG | Australia |
P = 2.93 × 10−10 OR = 1.45 |
Burdon et al7 | |
| rs1063192(G) | CDKN2B | POAG | USA |
P = 2.30 × 20−17 OR = 1.43 |
Wiggs et al9 | |
| VCDR | Netherlands |
P = 1.96 × 10−14 B = −0.014 |
Ramdas et al17 | |||
| 14q22 | rs10483727(A) | SIX1/SIX6 | POAG | USA |
P = 3.87 × 10−11 OR = 1.32 |
Wiggs et al9 |
| VCDR | Netherlands |
P = 9.30 × 10−11 B = 0.012 |
Ramdas et al17 |
B = beta; IOP = intraocular pressure; NTG = normal tension glaucoma; OR =odds ratio; P = P value; POAG = primary open-angle glaucoma; SNP = single nucleotide polymorphism; VCDR = vertical cup-to-disc ratio.