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Specific gene variants play role in response to anti-VEGF treatment
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Specific genetic variants were found to play a role in the response to anti-VEGF treatment for age-related macular degeneration in a real-life retrospective study conducted in six Spanish tertiary care hospitals.
The study included 403 eyes of 403 consecutive patients treated with Lucentis (ranibizumab, Genentech) for AMD. In all cases, a loading dose of three monthly injections was administered, followed by as-needed treatment. Over 12 months of follow-up, patients were classified as good or poor responders based on visual acuity gain of at least five letters, central foveal thickness, and reduction or persistence of fluid on OCT.
DNA samples were genotyped for nine single nucleotide polymorphisms of six different genes — CFH, CFB, ARMS2, SERPINF1, VEGFR1 and VEGF — previously associated with AMD, including complement and angiogenesis genes as well as genes related to anti-VEGF response. Nongenetic factors, including gender, age, smoking and hypertension, were also assessed.
CFB, VEGFA and VEGFR1 were found to predispose patients to a good response, while SERPINF1 and CFH were associated with a poor response. Among nongenetic risk factors, hypertension and, to a lesser extent, smoking were also associated with poor response.
The authors pointed out that this was the first real-life study with a large cohort of patients in whom genetic factors were evaluated as biomarkers of response to treatment. The most important novel finding was the association of SERPINF1 with poor visual acuity outcomes and reduction of central foveal thickness after treatment.
“Based on our results, SERPINF1 and hypertension may both be good candidates for use as biomarkers of treatment response in AMD patients,” the authors wrote. – by Michela Cimberle
Disclosures: The authors report no relevant financial disclosures.
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