Abstract
BackgroundWe previously reported on subtypes of polypoidal choroidal vasculopathy (PCV), and categorized PCV as polypoidal choroidal neovascularization (CNV) and typical PCV. The aim of this study was to clarify whether complement component 2 (C2) and complement factor B (CFB) genotypes are associated with subtypes of polypoidal choroidal vasculopathy, such as polypoidal CNV and typical PCV.MethodsFirst, we categorized 677 patients into typical age-related macular degeneration (tAMD; 250 patients), PCV (376) and retinal angiomatous proliferation (RAP; 51). Second, we categorized 282 patients with PCV as having polypoidal CNV (84 patients) or typical PCV (198) based on indocyanine green angiographic findings. In total, 274 subjects without AMD, such as PCV and CNV, served as controls. A SNP (rs547154) in the C2 gene and three SNPs (rs541862, rs2072633, rs4151667) in the CFB gene were genotyped, and case–control studies were performed in subjects with these PCV subtypes.ResultsIn tAMD, no SNPs were associated with allele distributions. In PCV, rs547154 and rs2072633 were associated with allele distributions. RAP was only associated with rs2072633. After logistic regression analysis with adjustment for confounding factors, tAMD, PCV and RAP were found to be associated with rs2072633.As to PCV subtypes, there were significant differences in the distributions of rs547154, rs541862 and rs2072633 in the case–control studies for polypoidal CNV, but not between the typical PCV and control groups. Logistic regression analysis with adjustment for confounding factors showed the distributions of rs547154, rs541862 and rs2072633 to differ significantly between the controls and polypoidal CNV cases and that these SNPs were protective. The A/A genotype of rs2072633 was significantly more common in the polypoidal CNV than in the typical PCV group (p = 0.03), even with adjustment for polyp number and greatest linear dimension.ConclusionsPCV might be genetically divisible into polypoidal CNV and typical PCV. The C2 and CFB gene variants were shown to be associated with polypoidal CNV. Typical PCV was not associated with variants in these genes.
Highlights
We previously reported on subtypes of polypoidal choroidal vasculopathy (PCV), and categorized PCV as polypoidal choroidal neovascularization (CNV) and typical PCV
Nakata et al reported that, in the Japanese population, component 2 (C2) and complement factor B (CFB) are associated with both PCV and typical Age-related macular degeneration (AMD) [13]
There was a significant age-related maculopathy susceptibility 2 (ARMS2) gene difference in case–control studies of polypoidal CNV, but no difference between the typical PCV and control groups. This observation suggests that PCV might be genetically divisible into polypoidal CNV and typical PCV
Summary
We previously reported on subtypes of polypoidal choroidal vasculopathy (PCV), and categorized PCV as polypoidal choroidal neovascularization (CNV) and typical PCV. The aim of this study was to clarify whether complement component 2 (C2) and complement factor B (CFB) genotypes are associated with subtypes of polypoidal choroidal vasculopathy, such as polypoidal CNV and typical PCV. Neither feeder nor draining vessels are detectable and the number of network vessels is small This type is thought to represent an abnormality of the choroidal vasculature based on hyaline arteriosclerosis [17]. There was a significant ARMS2 gene difference in case–control studies of polypoidal CNV, but no difference between the typical PCV and control groups. This observation suggests that PCV might be genetically divisible into polypoidal CNV and typical PCV
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