The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration.

ABSTRACT:

Purpose

Genetic factors influence an individual's risk for developing age-related macular degeneration (AMD), a leading cause of irreversible vision loss. Previous studies investigating the potential association between all AMD subtypes and the SERPING1 gene, which encodes a key regulator of the classic complement pathway, have yielded conflicting results. The purpose of this study is to determine whether variations in SERPING1 are associated with neovascular AMD.

Methods

A total of 556 patients with neovascular AMD and 256 ethnically matched controls were genotyped for polymorphisms in SERPING1. A tagging single nucleotide polymorphism (tSNP) approach was used to cover the SERPING1 gene plus 2 kb on each side, spanning the promoter and the 3' untranslated regions. Ten SNPs

SUBMITTER: Lee AY 

PROVIDER: S-EPMC3655725 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature