Evaluation of the association of C5 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy
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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.
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.
The 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.
This 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.
All Author(s) ListLiu K, Ma L, Lai TYY, Brelen ME, Tam POS, Tham CC, Pang CP, Chen LJ
Journal nameEye and Vision
Volume Number6
Issue Number1
Article number34
LanguagesEnglish-United Kingdom
KeywordsAge-related macular degeneration, Polypoidal choroidal vasculopathy, Complete component 5, C5, Genetic association, Single-nucleotide polymorphism
Web of Science Subject CategoriesOphthalmology;Ophthalmology

Last updated on 2021-14-10 at 00:07