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

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Ke Liu ◽  
Li Ma ◽  
Timothy Y. Y. Lai ◽  
Marten E. Brelen ◽  
Pancy O. S. Tam ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Association Analysis ◽  
Polypoidal Choroidal Vasculopathy ◽  
Interaction Analysis ◽  
Statistical Significance ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Neovascular Amd ◽  
Age Related ◽  
Choroidal Vasculopathy

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.

Characteristics of Neovascular Age-Related Macular Degeneration in Brazilian Patients

2015 ◽  
Vol 234 (4) ◽  
pp. 233-242 ◽  
Author(s):  
Frederico Braga Pereira ◽  
Carlos Eduardo Veloso ◽  
Gregg T. Kokame ◽  
Márcio B. Nehemy
Keyword(s):  
Macular Degeneration ◽  
Fluorescein Angiography ◽  
Clinical Features ◽  
Polypoidal Choroidal Vasculopathy ◽  
Retinal Angiomatous Proliferation ◽  
Age Related Macular Degeneration ◽  
Neovascular Amd ◽  
Age Related ◽  
The Mean ◽  
Choroidal Vasculopathy

Purpose: To report features of neovascular age-related macular degeneration (AMD) in Brazilian patients. Procedures: Data were prospectively collected from patients diagnosed with neovascular AMD. Eyes were classified as having typical neovascular AMD, polypoidal choroidal vasculopathy (PCV), or retinal angiomatous proliferation (RAP). Results: In total, 265 eyes of 207 patients of predominantly Caucasian ancestry were included; 166 (62.6%) eyes had typical neovascular AMD, 65 (24.5%) eyes had PCV, and 34 (12.8%) eyes had RAP. RAP demonstrated a higher percentage of bilateral cases (p = 0.015). The mean foveal subfield thickness was significantly lower in eyes with PCV (p < 0.001). Cases with typical neovascular AMD had a higher percentage of predominantly classic and minimally classic lesions on fluorescein angiography (FA; p = 0.005). Conclusions: In Brazilian patients, PCV and RAP represented 24.5 and 12.8% of neovascular AMD cases. Neovascular AMD subtypes differ in relation to clinical features, mean foveal subfield thickness and FA presentation.

Identification of TIE2 as a susceptibility gene for neovascular age-related macular degeneration and polypoidal choroidal vasculopathy

2020 ◽  
pp. bjophthalmol-2019-315746
Author(s):  
Zhen Ji Chen ◽  
Li Ma ◽  
Marten E Brelen ◽  
Haoyu Chen ◽  
Motokazu Tsujikawa ◽  
...  
Keyword(s):  
Hong Kong ◽  
Macular Degeneration ◽  
Polypoidal Choroidal Vasculopathy ◽  
Susceptibility Gene ◽  
Age Related Macular Degeneration ◽  
Nucleotide Polymorphisms ◽  
Control Subjects ◽  
Age Related ◽  
Chinese Cohort ◽  
Choroidal Vasculopathy

PurposeThe endothelial and cell-specific angiopoietin-Tie pathway plays an important regulatory role in angiogenesis. In this study, we investigated the associations of the TIE2 (tyrosine kinase, endothelial, TEK) gene with neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV), using haplotype-tagging single-nucleotide polymorphisms (SNPs) analysis.MethodsThis study involved totally 2343 subjects, including a Hong Kong Chinese cohort (214 nAMD patients, 236 PCV patients and 433 control subjects), a Shantou Chinese cohort (189 nAMD patients, 187 PCV patients and 531 control subjects) and an Osaka Japanese cohort (192 nAMD patients, 204 PCV patients and 157 control subjects). Thirty haplotype-tagging SNPs in TIE2 were genotyped in the Hong Kong cohort using TaqMan technology. Two SNPs (rs625767 and rs2273717) showing association in the Hong Kong cohort were genotyped in the Shantou and Osaka cohorts. The SNP-disease association of individual and pooled cohorts were analysed.ResultsTwo SNPs (rs625767 and rs2273717) showed suggestive association with both nAMD and PCV in the Hong Kong cohort. In the meta-analysis involving all the three cohorts, rs625767 showed significant associations with nAMD (p=0.01; OR=0.82, 95% CI 0.70 to 0.96; I2=0%), PCV (p=0.02; OR=0.83, 95% CI 0.71 to 0.97; I2=27%) and pooled nAMD and PCV (p=0.002; OR=0.82, 95% CI 0.72 to 0.93; I2=0%), with low inter-cohort heterogeneities.ConclusionThis study revealed TIE2 as a novel susceptibility gene for nAMD and PCV in Japanese and Chinese. Further studies in other populations are warranted to confirm its role.

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