Genetic Association Analysis of Drusen Progression.

ABSTRACT:

Purpose

Age-related macular degeneration is a common form of vision loss affecting older adults. The etiology of AMD is multifactorial and is influenced by environmental and genetic risk factors. In this study, we examine how 19 common risk variants contribute to drusen progression, a hallmark of AMD pathogenesis.

Methods

Exome chip data was made available through the International AMD Genomics Consortium (IAMDGC). Drusen quantification was carried out with color fundus photographs using an automated drusen detection and quantification algorithm. A genetic risk score (GRS) was calculated per subject by summing risk allele counts at 19 common genetic risk variants weighted by their respective effect sizes. Pathway analysis of drusen progression was carried out with the softwa

SUBMITTER: Hoffman JD 

PROVIDER: S-EPMC4849854 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature