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

Ke Liu; Li Ma; Timothy Y Y Lai; Marten E Brelen; Pancy O S Tam; Clement C Tham; Chi Pui Pang; Li Jia Chen

doi:10.1186/s40662-019-0161-2

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

Eye Vis (Lond). 2019 Nov 7:6:34. doi: 10.1186/s40662-019-0161-2. eCollection 2019.

Authors

Ke Liu¹, Li Ma¹, Timothy Y Y Lai¹, Marten E Brelen^{1

2}, Pancy O S Tam¹, Clement C Tham¹, Chi Pui Pang¹, Li Jia Chen^{1

2}

Affiliations

¹ 1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.
² 2Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong, China.

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Age-related macular degeneration; C5; Complete component 5; Genetic association; Polypoidal choroidal vasculopathy; Single-nucleotide polymorphism.