TABLE 8.
Associations Between Specific Genetic Variants and Risk of Progression to Advanced Stages of Age-Related Macular Degeneration: Derivation and Validation Cohorts.
| Derivation Cohort | Validation Cohort | |||
|---|---|---|---|---|
| n=1149/5355a | n=686/3955 | |||
| HR (95% CI)b | P value | HR (95% CI) | P value | |
| Genetic loci | ||||
| Complement pathway | ||||
| CFH Y402H: rs1061170 | 1.14 (1.02-1.29) | 0.03 | 1.09 (0.92-1.29) | 0.32 |
| CFH: rs1410996 | 1.46 (1.26-1.69) | <.0001 | 1.38 (1.09-1.74) | 0.007 |
| CFH R1210C: rs121913059 | 4.18 (2.79-6.27) | <.0001 | 1.49 (0.77-2.77) | 0.23 |
| C2 E318D: rs9332739 | 0.60 (0.43-0.85) | 0.004 | 0.51 (0.32-0.83) | 0.007 |
| CFB R32Q: rs641153 | 0.71 (0.54-0.93) | 0.01 | 0.99 (0.72-1.39) | 0.99 |
| C3 R102G: rs2230199 | 1.27 (1.15-1.41) | <.0001 | 1.15(1.01-1.33) | 0.04 |
| C3 K155Q: rs147859257 | 2.00 (1.50-2.66) | <.0001 | 1.16 (0.49-2.73) | 0.74 |
| Immune/inflammatory pathway | ||||
| ARMS2/HTRA1: rs10490924 | 1.47 (1.34-1.62) | <.0001 | 1.49 (1.31-1.70) | <.0001 |
| PELI3: rs145732233 | 0.29 (0.07-1.18) | 0.08 | 0.48 (0.16-1.46) | 0.19 |
| Extracellular matrix | ||||
| COL8A1: rs13095226 | 1.18 (1.03-1.37) | 0.02 | 1.33 (1.09-1.64) | 0.006 |
| CTRB1: rs8056814 | 0.84 (0.69-1.02) | 0.07 | 0.87 (0.67-1.13) | 0.74 |
| DNA repair/protein binding | ||||
| RAD51B: rs8017304 | 0.85 (0.77-0.94) | 0.001 | 0.88 (0.77-1.02) | 0.09 |
| HSPH1/B3GALTL: rs9542236 | 1.14 (1.04-1.25) | 0.004 | 1.07 (0.94-1.23) | 0.31 |
a
Sample sizes reported as (numerator/denominator), where the numerator is equal to the number of eyes that progressed during follow up, and the denominator is equal to the number of eligible eyes at baseline, among participants with complete genetic data.
b
HRs for 12 year progression reflect risk per allele, and are adjusted for age, sex, race, education, baseline grade, BMI, smoking status, and all other SNPs in the table.