Genetic association between the CFH variant rs1061170 and age-related macular degeneration and response to anti-VEGF therapy

PURPOSE This study investigates the impact of CFH rs1061170 gene polymorphism on susceptibility to age-related macular degeneration (AMD) and response to anti-vascular endothelial growth factor (anti-VEGF) therapy. AMD is a major public health problem worldwide as it is the leading cause of irreversible loss of central vision in the aging population. Anti-VEGF therapies have been shown to be effective, but do not respond equally well in all patients. The main objectives of the study are to decipher genetic mechanisms and identify personalized treatment biomarkers to optimize treatment strategies by tailoring them to individual genetic profiles, thereby improving outcomes for patients with AMD. SETTING / VENUE Lithuanian University of Health Sciences Kaunas Clinics, Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, Neuroscience Institute, Kaunas, Lithuania. METHODS Response to anti-VEGF therapy was evaluated in 115 patients with exudative AMD and 121 healthy controls. The response to anti-VEGF therapy in AMD patients was assessed by visual acuity results and optical coherence tomography parameters. DNA was extracted using the salting-out method. The genotypes of the CFH polymorphism rs1061170 were determined by RT-PCR. The results were statistically calculated using the software “IBM SPSS Statistics 29.0.1.0”. RESULTS We found that carriers of the CFH rs1061170 CC genotype had a better response to VEGF therapy under the recessive genetic model (OR = 4.071; 95% CI: 1.121–14.788; p = 0.033), while the TC genotype was more common in non-responders and showed the association with a poorer response to treatment with VEGF therapy (OR = 0.263; 95% CI: 0.089–0.778; p = 0.016). CONCLUSIONS CFH polymorphisms influence susceptibility to AMD, and the rs1061170 CC genotype correlates with a favorable response to anti-VEGF therapy. Further studies are critical to thoroughly evaluate the developmental significance, treatment efficacy, and predictive ability in influencing susceptibility to anti-VEGF therapy in CFH.