Article
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 - 1 Nov 2021
Ulańczyk Zofia, Grabowicz Aleksandra, Mozolewska-Piotrowska Katarzyna, Safranow Krzysztof, Kawa Miłosz Piotr, Pałucha Andrzej, Krawczyk Mariusz, Sikora Piotr, Matczyńska Ewa, Machaliński Bogusław, Machalińska Anna
Abstract excerpt
PURPOSE: Age-related macular degeneration (AMD) is associated with multiple environmental and genetic risk factors. Two main risk factors for AMD are variants in the CFH and ARMS2/HTRA1 genes. We investigated over 2000 variants in AMD patients and controls using high-throughput sequencing methods to search for variants associated with AMD. METHODS: A total of 296 AMD patients and 100 controls were enrolled in...
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