Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.

ABSTRACT:

Background

Neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are sight-threatening maculopathies with both environmental and genetic risk factors. We have previously shown relative risks posed by genes of the complement pathways to neovascular AMD and PCV.

Methods

In this study, we investigated the haplotype-tagging single nucleotide polymorphisms (SNPs) in the complement component 5 (C5) gene in 708 unrelated Chinese individuals: 200 neovascular AMD patients, 233 PCV patients and 275 controls. Six tagging SNPs in C5 were genotyped. Univariate single SNP association analysis, haplotype-based association analysis and gene-gene interaction analysis between C5 and other AMD-associated genes were performed.

SUBMITTER: Liu K 

PROVIDER: S-EPMC6836349 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature