A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration

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 deep phenotype association study (DeePAS) in the Age-Related Eye Disease Study 2 (AREDS2), followed by replication using AREDS participants, to identify genotype associations with AMD and non-AMD ocular and systemic phenotypes.

Source: Ophthalmology - October 30, 2017 Category: Opthalmology Authors: Freekje van Asten, Michael Simmons, Ayush Singhal, Tiarnan D. Keenan, Rinki Ratnapriya, Elvira Agr ón, Traci E. Clemons, Anand Swaroop, Zhiyong Lu, Emily Y. Chew, Age-Related Eye Disease Study 2 Research Group Source Type: research