Table 1.
Association between Phenotypes of Age-Related Macular Degeneration and the TLR3 Variant rs3775291 (Leu412Phe).*
| Value | Edwards Series | Swaroop Series | Seddon Series | AREDS Series† | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients with Geographic Atrophy |
Patients with Exudative AMD |
Controls | Patients with Geographic Atrophy |
Patients with Exudative AMD |
Controls | Patients with Geographic Atrophy |
Patients with Exudative AMD |
Controls | Patients with Geographic Atrophy |
Patients with Exudative AMD |
Controls | |
| No. of participants | 89 | 178 | 222 | 279 | 377 | 317 | 218 | 646 | 479 | 184 | 247 | 171 |
| Genotype — no. (%) | ||||||||||||
| CC | 42 (47) | 73 (41) | 124 (56) | 135 (48) | 171 (45) | 158 (50) | 113 (52) | 305 (47) | 235 (49) | 86 (47) | 117 (47) | 81 (47) |
| CT | 41 (46) | 88 (49) | 81 (36) | 120 (43) | 171 (45) | 124 (39) | 78 (36) | 304 (47) | 210 (44) | 82 (45) | 108 (44) | 78 (46) |
| TT | 6 (7) | 17 (10) | 17 (8) | 24 (9) | 35 (9) | 35 (11) | 27 (12) | 37 (6) | 34 (7) | 16 (9) | 22 (9) | 12 (7) |
| Frequency of minor T allele | 0.30 | 0.34 | 0.26 | 0.30 | 0.32 | 0.31 | 0.30 | 0.29 | 0.29 | 0.31 | 0.31 | 0.30 |
| P value | ||||||||||||
| Allele | 0.33 | 0.01 | 0.86 | 0.58 | 0.68 | 0.94 | 0.74 | 0.76 | ||||
| Additive genotype | 0.33 | 0.01 | 0.86 | 0.59 | 0.63 | 0.90 | 0.73 | 0.77 | ||||
*
The TaqMan genotyping platform was used for the Edwards and Swaroop series, the Affymetrix 6.0 genotyping platform for the Seddon series, and the Illumina Human-1 genotyping platform for the Age-Related Eye Disease Study (AREDS). AMD denotes age-related macular degeneration. P values are for comparisons with controls with the use of an additive model of genotype effect on the risk of AMD.
†
Data are from the National Institutes of Health Genotype and Phenotype database (dbGaP) (http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000001.v2.p1; accession number, phs000001.v2.p1).