Abstract
BackgroundNeovascular 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.MethodsIn 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.ResultsThe results revealed none of the six tagging SNPs of the C5 gene had a significant association with neovascular AMD or PCV (P > 0.05). We also found insignificant haplotype-based association, and no significant SNP-SNP interaction between C5 and other genes (including C2-CFB-RDBP-SKIV2L, SERPING1, CETP, ABCG1, PGF, ANGPT2, CFH and HTRA1) for neovascular AMD and PCV.ConclusionsThis study showed no statistical significance in the genetic association of C5 with neovascular AMD or PCV in a Hong Kong Chinese population. Further studies in large samples from different populations are warranted to elucidate the role of C5 in the genetic susceptibility of AMD and PCV.
Highlights
Neovascular age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are sight-threatening maculopathies with both environmental and genetic risk factors
Individual single nucleotide polymorphisms (SNPs) association analysis In the International HapMap Project for Chinese in Beijing population (CHB) population, the 6 selected SNPs captured all alleles in the component 5 (C5) gene with a minor allele frequency larger than 0.1 and a mean r2 of 0.94
No significant difference of the allelic frequencies for these SNPs was observed in neovascular AMD and PCV compared with controls (P > 0.05, Table 2)
Summary
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. The incidence of PCV in the overall neovascular AMD patients was reportedly about 24.5 to 54.7% in Asians [1, 11,12,13], comparing to approximately 8.7% in Caucasians [13, 14]. Neovascular AMD responds well to antivascular endothelial growth factor (anti-VEGF) monotherapy, whilst PCV usually requires combined antiVEGF and photodynamic therapy [13]. The plasma inflammaging profiles are different between patients with PCV and neovascular AMD [15]. Whether PCV is a subtype of AMD or a different disease category remains an open question that needs more profound review and investigation
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
