Association of the vascular endothelial growth factor genes with age-related macular degeneration and polypoidal choroidal vasculopathy

摘要

Purpose: The association profiles of the vascular endothelial growth factor (VEGF) genes with AMD are controversial in different ethnic populations, while little is known about the VEGF genes in PCV. In this study, we investigated the associations of the VEGFA and VEGFB genes with nAMD and PCV. Methods: Five reported single nucleotide polymorphisms (SNPs) in VEGFA, and 2 haplotype-tagging SNPs and 1 missense variant in VEGFB were genotyped in a Han Chinese cohort of 200 nAMD patients, 200 PCV patients and 400 controls, using TaqMan genotyping technology, followed by detailed association analyses. Results: One tagging SNP in VEGFB showed a significant association (P=0.04) with PCV but not with nAMD. The minor allele conferred an increased risk of PCV, with an odds ratio (OR) of 1.3. The other SNPs in VEGFA or VEGFB did not showed significant association with nAMD or PCV. Notably, the VEGFA SNP rs833061 (OR=0.9) in this study showed an opposite trend with that reported in a previous meta-analysis paper of VEGFA in AMD (rs833061, OR=1.54). Conclusions: This study, for the first time, identified an association of a VEGFB SNP with PCV, indicating that VEGFB is a putative gene for PCV. Further replications in other cohorts are warranted to confirm its role. Moreover, our data reveals that reported VEGFA SNPs are not associated with AMD in Chinese, being different from other populations.