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Genetic factors associated with age‐related macular degeneration: Identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease

Acta Ophthalmologica Jan 27, 2021

Ulańczyk Z, Grabowicz A, Mozolewska‐Piotrowska K, et al. - Researchers sought to examine single nucleotide polymorphisms (SNPs) in genes previously reported to be associated with age‐related macular degeneration (AMD) in patients and control group using high-throughput sequencing methods to search for variants associated with AMD. In total, 296 AMD patients and 100 controls were recruited in this investigation. Multivariate analysis of patients and controls, adjusted for age, gender and smoking status (pack‐years), showed that three SNPs were strong risk factors independently linked to AMD: CFH Y402H, ARMS A69S and PRPH2 c.582‐67T>A (rs3818086). Although PRPH2 mutations have previously been involved in various types of retinal degeneration, this research is the first to demonstrate, to the best of its knowledge, that the rs3818086 variant increases the risk of AMD more than two times.

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