COL1A2 polymorphic markers confer an increased risk of neovascular age-related macular degeneration in a Han Chinese population.

ABSTRACT:

Purpose

We have previously documented that neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) have multiple different clinical and genetic characteristics. In this study, we investigated the association of rs42524 in the alpha-2 type I collagen (COL1A2) gene, which has been identified as a risk variant for intracranial aneurysm, with nAMD and PCV in a Han Chinese population.

Methods

The study prospectively recruited 195 patients with PCV, 136 patients with nAMD, and 181 control individuals. We genotyped the rs42524 polymorphism of COL1A2 using the Multiplex SNaPshot System and direct DNA sequencing. Genotype and allele frequencies were evaluated with PLINK software.

Results

The rs42524 polymorphism was modestly significantl

SUBMITTER: Zuo C 

PROVIDER: S-EPMC3398488 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature