Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan.
BMC Ophthalmol. 2014 Jun 25;14:83. doi: 10.1186/1471-2415-14-83.
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.
First, 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.
In 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.
PCV 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.
我们之前报道了息肉样脉络膜血管病变（PCV）的亚型，并将 PCV 分为息肉样脉络膜新生血管（CNV）和典型 PCV。本研究旨在阐明补体成分 2（C2）和补体因子 B（CFB）基因型是否与息肉样脉络膜血管病变的亚型有关，如息肉样 CNV 和典型 PCV。
首先，我们将 677 名患者分为典型年龄相关性黄斑变性（tAMD；250 名患者）、PCV（376 名）和视网膜血管瘤样增生（RAP；51 名）。其次，根据吲哚青绿血管造影结果，将 282 名 PCV 患者分为息肉样 CNV（84 名）和典型 PCV（198 名）。共有 274 名无 AMD 的患者，如 PCV 和 CNV，作为对照组。对 C2 基因中的 SNP（rs547154）和 CFB 基因中的三个 SNP（rs541862、rs2072633、rs4151667）进行了基因分型，并对这些 PCV 亚型的病例对照进行了研究。
在 tAMD 中，没有 SNP 与等位基因分布相关。在 PCV 中，rs547154 和 rs2072633 与等位基因分布相关。RAP 仅与 rs2072633 相关。经过调整混杂因素的逻辑回归分析，发现 tAMD、PCV 和 RAP 与 rs2072633 相关。对于 PCV 亚型，在息肉样 CNV 的病例对照研究中，rs547154、rs541862 和 rs2072633 的分布存在显著差异，但在典型 PCV 组和对照组之间无差异。调整混杂因素的逻辑回归分析显示，rs547154、rs541862 和 rs2072633 在对照组和息肉样 CNV 病例之间的分布有显著差异，这些 SNP 具有保护作用。与典型 PCV 组相比，rs2072633 的 A/A 基因型在息肉样 CNV 中更为常见（p=0.03），即使调整息肉数量和最大线性维度也是如此。
PCV 可能在遗传上可分为息肉样 CNV 和典型 PCV。C2 和 CFB 基因变异与息肉样 CNV 相关。典型 PCV 与这些基因的变异无关。
