Article
A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.
Ophthalmology - 1 Apr 2018
van Asten Freekje, Simmons Michael, Singhal Ayush, Keenan Tiarnan D, Ratnapriya Rinki, Agrón Elvira, Clemons Traci E, Swaroop Anand, Lu Zhiyong, Chew Emily Y
Abstract excerpt
PURPOSE: Age-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association study (GWAS). These genetic variants could modulate different biological pathways involved in AMD, contributing to phenotypic variability. To better understand the effects of these SNPs, we performed a...
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