Table 2. Summary of SNPs found to be associated with POAG by a targeted genotyping approach.
| SNP ID | rs2157719 | rs33912345 | rs9913911 |
|---|---|---|---|
| Risk allele | (T) | (C) | (A) |
| Nearest gene | CDKN2B-AS1 | SIX6 | GAS7 |
| Function | intronic | missense | Intronic |
| Chr | 9 | 14 | 17 |
| Position (hg19, bp) | 22,033,366 | 60,976,537 | 10,031,183 |
| Primary cohorts | |||
| Frequency | 0.893/0.838 | 0.832/0.772 | 0.443/0.396 |
| P | 1.42E-05 | 1.67E-04 | 9.33E-03 |
| OR (95% CI) | 1.61 (1.29–2.00) | 1.42 (1.18–1.71) | 1.21 (1.05–1.40) |
| Replication cohorts | |||
| Frequency | 0.888/0.828 | 0.820/0.772 | 0.449/0.395 |
| P | 7.38E-05 | 7.20E-03 | 1.47E-02 |
| OR (95% CI) | 1.65 (1.28–2.14) | 1.34 (1.08–1.67) | 1.24 (1.04–1.48) |
| Meta-analysis | |||
| P | 5.78E-09 | 4.33E-06 | 3.32E-04 |
| OR (95% CI) | 1.63 (1.38–1.92) | 1.38 (1.20–1.59) | 1.22 (1.09–1.37) |
| Phet | 0.871 | 0.701 | 0.828 |
Significance level was set at Pcorrected < 2.50E-03 (0.05/20 SNPs) for the first step and the meta-analysis and at Pcorrected < 1.67E-02 (0.05/3 SNPs) for the second step after Bonferroni correction. Bold texts indicate values with a statistically significant difference after the correction. Chr, chromosome; bp, base pair; Frequency, frequency of risk alleles for each case and control; OR, odds ratio; CI, confidence interval; Phet, P value of heterogeneity by Cochran’s Q test.