Abstract
ObjectiveTo compare the association of elastin (ELN) gene variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).MethodsWe included 411 treatment-naïve PCV patients and 350 controls in the present study. PCV was classified into two phenotypes (152 Type 1 and 259 Type 2) according to the presence or absence of feeding vessels found in indocyanine-green angiography. Single nucleotide polymorphisms (SNPs) in the ELN region including rs868005, rs884843, rs2301995, rs13239907 and rs2856728 were genotyped using TaqMan Genotyping Assays.ResultsIn the allelic association analyses, rs868005 showed the strongest association with Type 2 PCV (allelic odds ratio 1.56; p = 7.4x10-6), while no SNP was significantly associated with Type 1 PCV. Genotype association analyses revealed the significant association of rs868005 with Type 2 PCV in log additive model and predominant model (odds ratio 1.75; p = 1.5x10-6 and odds ratio 1.60; p = 0.0044, respectively), but not with Type 1 PCV. These findings were further corroborated by another control group in the literature.ConclusionsThere may be significantly different associations in genetic variants of elastin between two angiographic phenotypes of PCV.
Highlights
Polypoidal choroidal vasculopathy (PCV) is recognized as a phenotype of neovascular agerelated macular degeneration (AMD) and is considered as a type of choroidal neovascularization (CNV) [1,2,3]
In the allelic association analyses, rs868005 showed the strongest association with Type 2 PCV, while no Single nucleotide polymorphisms (SNPs) was significantly associated with Type 1 PCV
We previously reported that coding variants of elastin (ELN), a principle component of the elastic lamina in Bruch’s membrane, were associated with PCV but not with typical neovascular AMD (tAMD) [8]
Summary
Polypoidal choroidal vasculopathy (PCV) is recognized as a phenotype of neovascular agerelated macular degeneration (AMD) and is considered as a type of choroidal neovascularization (CNV) [1,2,3]. Two subsequent reports with larger cohorts showed conflicting results; the ELN polymorphism was associated with tAMD but not with PCV [11,18]. These studies showed an opposite (risk/protective) effect of ELN variants associated with tAMD. Those inconsistent results might occur in part by a deviation of allele frequencies in the control group of each study [8,11,18]. Associations of ELN variants with tAMD and PCV remain inconclusive
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