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

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 s...

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Published in:Eye and vision (Novato, Calif.) Calif.), 2019-11, Vol.6 (1), p.34-34, Article 34
Main Authors: Liu, Ke, Ma, Li, Lai, Timothy Y Y, Brelen, Marten E, Tam, Pancy O S, Tham, Clement C, Pang, Chi Pui, Chen, Li Jia
Format: Article
Language:English
Subjects:
Age-related macular degeneration
Complement (Immunology)
Complete component 5
Genetic aspects
Genetic association
Health aspects
Macular degeneration
Microcirculation disorders
Polypoidal choroidal vasculopathy
Risk factors
Single nucleotide polymorphisms
Single-nucleotide polymorphism
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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. In this study, we investigated the haplotype-tagging single nucleotide polymorphisms (SNPs) in the ( ) gene in 708 unrelated Chinese individuals: 200 neovascular AMD patients, 233 PCV patients and 275 controls. Six tagging SNPs in were genotyped. Univariate single SNP association analysis, haplotype-based association analysis and gene-gene interaction analysis between and other AMD-associated genes were performed. The results revealed none of the six tagging SNPs of the gene had a significant association with neovascular AMD or PCV (  > 0.05). We also found insignificant haplotype-based association, and no significant SNP-SNP interaction between and other genes (including - - - , , , , , , and ) for neovascular AMD and PCV. This study showed no statistical significance in the genetic association of 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 in the genetic susceptibility of AMD and PCV.
ISSN:2326-0254
2326-0254
DOI:10.1186/s40662-019-0161-2