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

Autor: Chi Pui Pang, Ke Liu, Li Jia Chen, Marten E. Brelen, Li Ma, Timothy Y Y Lai, Pancy O. S. Tam, Clement C Y Tham
Rok vydání: 2019
Předmět:
Zdroj: Eye and Vision, Vol 6, Iss 1, Pp 1-7 (2019)
ISSN: 2326-0254
DOI: 10.1186/s40662-019-0161-2
Popis: 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 thecomplement component 5(C5) gene in 708 unrelated Chinese individuals: 200 neovascular AMD patients, 233 PCV patients and 275 controls. Six tagging SNPs inC5were genotyped. Univariate single SNP association analysis, haplotype-based association analysis and gene-gene interaction analysis betweenC5and other AMD-associated genes were performed.ResultsThe results revealed none of the six tagging SNPs of theC5gene 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 betweenC5and other genes (includingC2-CFB-RDBP-SKIV2L,SERPING1,CETP,ABCG1,PGF,ANGPT2,CFHandHTRA1) for neovascular AMD and PCV.ConclusionsThis study showed no statistical significance in the genetic association ofC5with neovascular AMD or PCV in a Hong Kong Chinese population. Further studies in large samples from different populations are warranted to elucidate the role ofC5in the genetic susceptibility of AMD and PCV.
Databáze: OpenAIRE
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