Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration
Abstract
:1. Introduction
2. Materials and Methods
2.1. Observational Study Design
2.2. Clinical Data Acquisition
2.3. Genetic Data Acquisition
2.4. Definition of Treatment Response
2.5. Genetic Association Testing and Statistic Analysis
2.6. Literature Search
2.7. Quality Control Measures
2.8. Statistical Power Analysis
3. Results
3.1. Observational Study—Clincial Evaluation
3.2. Genome-Wide Association Study of Treatment Response
3.3. Targeted Genetic Analysis
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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All | Responder | Non-Responder | |
---|---|---|---|
n | 179 | 128 | 51 |
Mean age (SD) | 77.3 (7.15) | 77.98 (6.56) | 75.57 (8.27) |
Male/Female | 72/107 | 48/80 | 24/27 |
Eylea/Lucentis | 63/116 | 50/78 | 13/38 |
Mean VA BSL [logMAR] (SD) | 0.53 (0.34) | 0.56 (0.36) | 0.45 (0.28) |
Mean VA treated [logMAR] (SD) | 0.44 (0.33) | 0.44 (0.33) | 0.44 (0.32) |
Mean CRT BSL [µm] (SD) | 396.47 (158.61) | 411.2 (175.4) | 359.51 (97.29) |
Mean CRT treated [µm] (SD) | 266.15 (95.43) | 243.74 (80.02) | 322.37 (107.92) |
Mean TRT BSL [µm] (SD) | 500.26 (135.91) | 515.93 (149.7) | 460.92 (81.45) |
Mean TRT treated [µm] (SD) | 341.55 (83.44) | 322.3 (73.6) | 389.88 (87.73) |
Variant | Locus | Position [hg19] | Effect Allele | Other Allele | Independent Validation Corrected p-Value a |
---|---|---|---|---|---|
rs10158937 | OR52B4 | 1:66144876 | C | A | 0.987 |
rs12138564 | CCT3 | 1:156291600 | T | G | 0.987 |
rs3753394 | CFH | 1:196620917 | C | T | 0.987 |
rs800292 | CFH | 1:196642233 | A | G | 0.645 |
rs1061170 | CFH | 1:196659237 | T | C | 0.987 |
rs1329428 | CFH | 1:196702810 | T | C | 0.987 |
rs1065489 | CFH | 1:196709774 | G | T | 0.987 |
rs17793056 | CX3CR1 | 3:39309215 | C | T | 0.645 |
rs6828477 | VEGFR2 | 4:55966801 | T | C | 0.987 |
rs4576072 | VEGFR2 | 4:55986238 | T | C | 0.987 |
rs2071559 | VEGFR2 | 4:55992366 | G | A | 0.987 |
rs4073 | IL-8 | 4:74606024 | T | A | 0.987 |
rs429608 | C2 | 6:31930462 | A | G | 0.987 |
rs699946 | VEGFA | 6:43732669 | G | A | 0.645 |
rs699947 | VEGFA | 6:43736389 | C | A | 0.987 |
rs3025000 | VEGFA | 6:43746169 | T | C | 0.987 |
rs3025039 | VEGFA | 6:43752536 | T | C | 0.987 |
rs2069845 | IL6 | 7:22770149 | G | A | 0.645 |
rs1883025 | ABCA1 | 9:107664301 | T | C | 0.645 |
rs25681 | C5 | 9:123780005 | A | G | 0.987 |
rs2070296 | NRP1 | 10:33552695 | C | T | 0.645 |
rs10490924 | ARMS2 | 10:124214448 | G | T | 0.987 |
rs4910623 | OR52B4 | 11:4389639 | A | G | 0.645 |
rs12366035 | VEGFB | 11:64004692 | T | C | 0.987 |
rs55732851 | VWA3A | 16:22137603 | G | A | 0.645 |
rs1800775 | CETP | 16:56995236 | C | A | 0.645 |
rs12603486 | SERPINF1 | 17:1667724 | G | A | 0.645 |
rs13900 | CCL2 | 17:32583911 | T | C | 0.987 |
rs323085 | OR52B4 | 18:49290621 | G | A | 0.987 |
rs7412 | APOE | 19:45412079 | C | T | 0.987 |
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Strunz, T.; Pöllmann, M.; Gamulescu, M.-A.; Tamm, S.; Weber, B.H.F. Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration. Int. J. Mol. Sci. 2022, 23, 6094. https://doi.org/10.3390/ijms23116094
Strunz T, Pöllmann M, Gamulescu M-A, Tamm S, Weber BHF. Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration. International Journal of Molecular Sciences. 2022; 23(11):6094. https://doi.org/10.3390/ijms23116094
Chicago/Turabian StyleStrunz, Tobias, Michael Pöllmann, Maria-Andreea Gamulescu, Svenja Tamm, and Bernhard H. F. Weber. 2022. "Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration" International Journal of Molecular Sciences 23, no. 11: 6094. https://doi.org/10.3390/ijms23116094