FLT1 genetic variation predisposes to neovascular AMD in ethnically diverse populations and alters systemic FLT1 expression.

ABSTRACT:

Purpose

Current understanding of the genetic risk factors for age-related macular degeneration (AMD) is not sufficiently predictive of the clinical course. The VEGF pathway is a key therapeutic target for treatment of neovascular AMD; however, risk attributable to genetic variation within pathway genes is unclear. We sought to identify single nucleotide polymorphisms (SNPs) associated with AMD within the VEGF pathway.

Methods

Using a tagSNP, direct sequencing and meta-analysis approach within four ethnically diverse cohorts, we identified genetic risk present in FLT1, though not within other VEGF pathway genes KDR, VEGFA, or VASH1. We used ChIP and ELISA in functional analysis.

Results

The FLT1 SNPs rs9943922, rs9508034, rs2281827, rs7324510, and rs9513115 were signif

SUBMITTER: Owen LA 

PROVIDER: S-EPMC4073997 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature