19Oct 2021
Genetic factors associated with age‐related macular degeneration: identification of a novel PRPH2 single nucleotide polymorphism associated with increased risk of the disease

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

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. A total of 296 AMD patients and 100 controls were enrolled in this study. Genetic analysis was performed with the Illumina NextSeq 500 system. Multivariate analysis of patients and controls, adjusted for age, sex and smoking status (pack‐years), revealed that three SNPs were strong risk factors independently associated with AMD: CFH Y402H, ARMS A69S and PRPH2 c.582‐67T>A (rs3818086)...

  • #ophthalmology

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