Strunz, Tobias and Poellmann, Michael and Gamulescu, Maria-Andreea and Tamm, Svenja and Weber, Bernhard H. F. (2022) Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 23 (11): 6094. ISSN , 1422-0067
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Anti-VEGF treatment for neovascular age-related macular degeneration (nAMD) has been FDA-approved in 2004, and since then has helped tens of thousands of patients worldwide to preserve vision. Still, treatment responses vary widely, emphasizing the need for genetic biomarkers to robustly separate responders from non-responders. Here, we report the findings of an observational study compromising 179 treatment-naive nAMD patients and their reaction to treatment after three monthly doses of anti-VEGF antibodies. We show that established criteria of treatment response such as visual acuity and central retinal thickness successfully divides our cohort into 128 responders and 51 non-responders. Nevertheless, retinal thickness around the fovea revealed significant reaction to treatment even in the formally categorized non-responders. To elucidate genetic effects underlying our criteria, we conducted an undirected genome-wide association study followed by a directed replication study of 30 previously reported genetic variants. Remarkably, both approaches failed to result in significant findings, suggesting study-specific effects were confounding the present and previous discovery studies. Of note, all studies so far are greatly underpowered, hampering interpretation of genetic findings. In consequence, we highlight the need for an extensive phenotyping study with sample sizes exceeding at least 15,000 to reliably assess anti-VEGF treatment responses in nAMD.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | RANIBIZUMAB; THERAPY; age-related macular degeneration; AMD; anti-VEGF treatment; observational study; genetic analysis |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 31 Oct 2023 06:54 |
| Last Modified: | 31 Oct 2023 06:54 |
| URI: | https://pred.uni-regensburg.de/id/eprint/56540 |
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