Three Variants of or near VEGF-A Gene are Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Han Chinese Population

Abstract

Purpose: To investigate whether three previously identified variants for age-related macular degeneration (AMD), the single nucleotide polymorphism (SNP) variants of or near the vascular endothelial growth factor A gene (VEGFA), were associated with neovascular AMD or polypoidal choroidal vasculopathy (PCV) in a Han Chinese cohort.

Methods: This was a case-control study comprising 251 PCV patients, 157 neovascular AMD patients, and 204 control participants in a Han Chinese population. The rs833069, rs943080 and rs4711751 SNP were genotyped using the Multiplex SNaPshot system. Genotypes and allele frequencies of patients and controls were evaluated for the SNPs using PLINK software.

Results: None of the allelic or genotypic effects of these three variants was significantly associated with PCV, neovascular AMD or combined both patient categories.

Conclusions: No association was found to support the role for the rs833069, rs943080 and rs4711751 variants of or near VEGFA gene in susceptibility to either PCV or neovascular AMD in Han Chinese population. Further replication is necessary to validate these results.

• Han Chinese population
• neovascular age-related macular degeneration
• polymorphisms
• polypoidal choroidal vasculopathy
• vascular endothelial growth factor A

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This study was supported by the National Natural Science Foundation of China [grant numbers: 81271011 and 81200705] and the Fundamental Research Funds of State Key Laboratory of Ophthalmology.