Table 4. Pharmacogenetic association with anti-vascular endothelial growth factor treatment outcome in neovascular age-related macular degeneration patients.
| Outcome parameters | Gene | Variant | Genotype (N)* | N (%) or Mean* | Genetic model | OR (95% CI)** | Uncorrected P - value† | Corrected P - value†† | |
|---|---|---|---|---|---|---|---|---|---|
| ≥ 15-letter gain |
12mo |
- |
- |
- |
|
- |
- |
- |
- |
| |
24mo |
VEGFA |
rs3025039 |
CC(219) / CT(124) / TT(23) |
64(29.2) / 39(29.0) / 13(56.5) |
Recessive |
4.57 (1.89-11.1) |
0.0027 |
0.0434 |
| BCVA change from baseline |
12mo |
- |
- |
- |
|
- |
- |
- |
- |
| |
24mo |
- |
- |
- |
|
- |
- |
- |
- |
| Dry status on OCT |
12mo |
- |
- |
- |
|
- |
- |
- |
- |
| |
24mo |
- |
- |
- |
|
- |
- |
- |
- |
| CSMT change from baseline |
12mo |
ARMS2 |
rs10490924 |
TT(196) / TG(150) / GG(47) |
-62.9 / -62.4 / -118.6 (µm) |
Additive |
- |
0.0141 |
0.2256 |
| |
|
|
|
|
Recessive |
- |
0.004 |
0.0656 |
|
| |
HTRA1 |
rs11200638 |
AA(202) / AG(144) / GG(48) |
-63.0 / -62.4 / -115.7 (µm) |
Additive |
- |
0.0141 |
0.2256 |
|
| |
|
|
|
|
Recessive |
- |
0.0033 |
0.0528 |
|
| 24mo |
ARMS2 |
rs10490924 |
TT(183) / TG(139) / GG(44) |
-63.2 / -60.9 / -126.2 (µm) |
Additive |
|
0.0384 |
0.6144 |
|
| |
|
|
|
|
|
Recessive |
- |
0.0258 |
0.4128 |
| |
|
HTRA1 |
rs11200638 |
AA(188) / AG(133) / GG(45) |
-62.3 / -62.4 / -123.7 (µm) |
Additive |
- |
0.0323 |
0.5168 |
| |
|
|
|
|
|
Recessive |
- |
0.0293 |
0.4688 |
| Number of injections |
12mo |
ARMS2 |
rs10490924 |
TT(196) / TG(150) / GG(47) |
6.8 / 6.8 / 6.1 |
Recessive |
- |
0.0344 |
0.5504 |
| |
|
HTRA1 |
rs11200638 |
AA(202) / AG(144) / GG(48) |
6.8 / 6.7 / 6.1 |
Recessive |
- |
0.0304 |
0.4864 |
| |
24mo |
VEGFA |
rs3025039 |
CC(219) / CT(124) / TT(23) |
10.7 / 10.4 / 9.0 |
Additive |
- |
0.0286 |
0.4576 |
| |
|
|
|
|
|
Recessive |
- |
0.015 |
0.2352 |
| |
|
ARMS2 |
rs10490924 |
TT(183) / TG(139) / GG(44) |
10.5 / 10.9 / 9.4 |
Recessive |
- |
0.0338 |
0.5408 |
| HTRA1 | rs11200638 | AA(188) / AG(133) / GG(45) | 10.5 / 10.9 / 9.4 | Recessive | - | 0.0275 | 0.4403 | ||
OR = Odds ratio; CI = Confidence interval; BCVA = Best-corrected visual acuity; OCT = Optical Coherence Tomography; CSMT = Central subfield macular thickness *: Major allele homozygote / Heterozygote / Minor allele homozygote **: Odds ratio calculated for minor allele homozygote †: Uncorrected P - value from logistic regression model (categorical outcomes) or linear regression model (continuous outcomes); Polymorphisms with uncorrected P value < 0.05 are listed ††: P - value corrected for multiple testing with Bonferroni method.