Table 4. Association between genetic variants and clinical parameters.
| rs2157719 near CDKN2B-AS1 (N = 598) | |||
| Additive model | Dominant model | Recessive model | |
| Variable | P value | P value | P value |
| Highest recorded IOP (N = 597) | 5.77E-03 (-1.59 ± 0.57)* | 1.70E-04 (-6.89±1.82)* | 0.06 |
| HFA parameters | |||
| : mean deviation (N = 597) | 0.95 | 0.75 | 0.96 |
| : pattern standard deviation (N = 597) | 0.42 | 0.95 | 0.35 |
| Peripapillary RNFL thickness | |||
| : total (N = 574) | 0.17 | 0.29 | 0.23 |
| : superior (N = 574) | 0.13 | 0.85 | 0.09 |
| : temporal (N = 574) | 0.08 | 0.23 | 0.12 |
| : inferior (N = 574) | 0.47 | 0.32 | 0.62 |
| : nasal (N = 574) | 0.95 | 0.37 | 0.71 |
| Vertical cup-to-disk ratio (N = 451) | 0.66 | 0.54 | 0.76 |
| Cup volume (N = 451) | 0.95 | 0.84 | 0.89 |
| Mean cup depth (N = 451) | 0.36 | 0.69 | 0.37 |
| Maximum cup depth (N = 451) | 0.30 | 0.44 | 0.36 |
| ONH blood flow (N = 503) | 2.00E-02 (-0.54±0.23)* | 0.60 | 1.39E-02 (-0.67±0.27)* |
| rs33912345 near SIX6 (N = 596) | |||
| Additive model | Dominant model | Recessive model | |
| Variable | P value | P value | P value |
| Highest recorded IOP (N = 595) | 0.94 | 0.82 | 0.99 |
| HFA parameters | |||
| : mean deviation (N = 595) | 0.30 | 0.82 | 0.27 |
| : pattern standard deviation (N = 595) | 0.17 | 0.47 | 0.19 |
| Peripapillary RNFL thickness | |||
| : total (N = 572) | 4.68E-02 (-2.16± 1.08)* | 0.93 | 2.40E-02 (-2.82±1.24)* |
| : superior (N = 572) | 1.33E-02 (-4.11± 1.65)* | 0.28 | 1.40E-02 (-4.69±1.90)* |
| : temporal (N = 572) | 0.87 | 0.05 | 0.37 |
| : inferior (N = 572) | 0.06 | 0.85 | 3.91E-02 (-3.88±1.87)* |
| : nasal (N = 572) | 0.28 | 0.47 | 0.33 |
| Vertical cup-to-disk ratio (N = 449) | 0.70 | 0.83 | 0.72 |
| Cup volume (N = 449) | 0.42 | 0.81 | 0.41 |
| Mean cup depth (N = 449) | 0.16 | 0.24 | 0.24 |
| Maximum cup depth (N = 449) | 0.24 | 0.37 | 0.30 |
| ONH blood flow (N = 501) | 2.20E-02 (0.44 ± 0.19)* | 0.05 | 0.05 |
| rs9913911 near GAS7 (N = 596) | |||
| Additive model | Dominant model | Recessive model | |
| Variable | P value | P value | P value |
| Highest recorded IOP (N = 595) | 0.86 | 0.94 | 0.75 |
| HFA parameters | |||
| : mean deviation (N = 595) | 0.10 | 0.05 | 0.41 |
| : pattern standard deviation (N = 595) | 0.24 | 2.44E-02 (-0.87±0.38)* | 0.88 |
| Peripapillary RNFL thickness | |||
| : total (N = 572) | 0.91 | 0.82 | 0.98 |
| : superior (N = 572) | 0.83 | 0.70 | 0.99 |
| : temporal (N = 572) | 0.56 | 0.57 | 0.69 |
| : inferior (N = 572) | 0.76 | 0.79 | 0.81 |
| : nasal (N = 572) | 0.63 | 0.29 | 0.87 |
| Vertical cup-to-disk ratio (N = 449) | 0.90 | 0.94 | 0.80 |
| Cup volume (N = 449) | 4.60E-02 (0.03±0.01)* | 0.08 | 0.12 |
| Mean cup depth (N = 449) | 4.11E-02 (0.03±0.01)* | 0.07 | 0.10 |
| Maximum cup depth (N = 449) | 0.13 | 0.25 | 0.18 |
| ONH blood flow (N = 501) | 0.57 | 0.10 | 0.59 |
Significance level was set at Pcorrected < 4.27E-04 (0.05/[3 SNPs × 13 covariates × 3 genetic models]) for the genotype-phenotype analysis after Bonferroni correction. Bold texts indicate values with a statistically significant difference after the correction.
* indicates P value (β±SE)
β, changes in clinical parameters per copy of the risk allele; SE, standard error,
N, The numbers of eyes used for each variable and the risk allele for each SNP were displayed. IOP, intraocular pressure. HFA, Humphrey Field Analyzer. RNFL, retinal nerve fiber layer. ONH, Optic nerve head.