Table 1.
Confirmation of previously reported association signals in the discovery samples
| SNP | Chromosome | Position (bp) | Notable nearby genes | Alleles(risk/nonrisk) | Frequency (risk allele) |
OR | P value | λsib | |
| Cases | Controls | ||||||||
| rs10737680* | 1 | 194,946,078 | CFH | A/C | 0.801 | 0.566 | 3.11 (2.76, 3.51) | 1.6 × 10−76 | 1.24 |
| rs3793917* | 10 | 124,209,265 | ARMS2/HTRA1 | G/C | 0.371 | 0.164 | 3.40 (2.94, 3.94) | 4.1 × 10−60 | 1.45 |
| rs429608 | 6 | 32,038,441 | C2/CFB | G/A | 0.920 | 0.842 | 2.16 (1.84, 2.53) | 2.5 × 10−21 | 1.05 |
| rs2230199* | 19 | 6,669,387 | C3 | C/G | 0.224 | 0.163 | 1.74 (1.47, 2.06) | 1.0 × 10−10 | 1.06 |
| rs2285714 | 4 | 110,858,259 | CFI | T/C | 0.464 | 0.395 | 1.31 (1.18, 1.45) | 3.4 × 10−7 | 1.02 |
| rs1329424* | 1 | 194,912,799 | CFH | T/G | 0.603 | 0.351 | 1.88 (1.68, 2.10) | 6.4 × 10−16 | 1.11 |
| rs9380272* | 6 | 32,013,989 | C2/CFB | A/G | 0.016 | 0.012 | 4.31 (2.76, 6.87) | 2.3 × 10−8 | 1.12 |
Association peaks at previously reported loci. For two of these loci (near CFH and C2/CFB), we found significant secondary signals after adjusting for the strongest initial signal. At C2/CFB locus, rs9380272 shows no significant association before adjusting for the primary signal because its risk allele is in linkage disequilibrium with the protective allele at rs429608. Conditioning on either of these two SNPs enhances the signal at the other SNP. The recurrence risk ratio λsib quantifies the increase in risk to siblings of affected individuals attributable to a specific allele. For example, a λsib of 1.24 implies that alleles at the first locus are responsible for 24% increase in risk to siblings of AMD patients compared with the general population.
*Imputation r2 > 0.95.