Table 4.
Association and meta-analysis of the discovery and replication studies for the top-ranked loci
| SNP | CHR | POS | Nearest gene | A1 | GIGA BioMe (discovery) | Meta-analysis replication studies | Meta-analysis discovery and replication | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Frequency A1 cases/controls | Ncases/Ncontrols | OR | P value | Frequency A1 cases/controls | Ncases/Ncontrols | OR | P value | I 2 | Phet | Frequency A1 cases/controls | ORa | P value* | I 2 | Phet | |||||
| rs9475699 | 6 | 56302054 | COL21A1-DST | A | 0.22/0.17 | 858/1061 | 1.65 (1.37–1.99) | 1.25E-07 | 0.22/0.22 | 2698/2338 | 0.95a (0.81–1.11) | 0.141 * | 59.6 | 0.042 | 0.22/0.21 | 1.04 (0.82–1.31) | 3.49E-06 | 85.06 | 3.03E-06 |
| rs141186647 | 7 | 133634202 | EXOC4 | A | 0.04/0.06 | 1113/1826 | 0.48 (0.37–0.62) | 3.75E-08 | 0.04/0.04 | 4588/4543 | 0.97 (0.92–1.02) | 0.278 | 0 | 0.723 | 0.04/0.05 | 0.90 (0.71–1.16) | 5.91E-05 | 79.86 | 4.30E-05 |
| rs62023880 | 15 | 56770871 | MNS1-ZNF280D | A | 0.30/0.26 | 1113/1826 | 1.39 (1.22–1.58) | 5.12E-07 | 0.28/0.26 | 4588/4543 | 1.02 (0.997–1.04) | 0.086 | 0 | 0.575 | 0.28/0.26 | 1.08 (0.97–1.21) | 1.17E-04 | 76.31 | 2.97E-04 |
SNP rsID, CHR chromosome, POS base pair; nearest gene (reference NCBI build37) is given as locus label, A1 effect allele, OR odds ratio on POAG based on allele A1, Phet P value for heterogeneity
*
P value’s in italics represent Han and Eskin’s random effect meta-analysis P values
a
OR from a random effect meta-analysis