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The Association of Age-related Maculopathy Susceptibility 2 (ARMS2) and Complement Factor H (CFH) Variants with Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy

Abstract Purpose: To compare the association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV). Methods: We included 175 Japanese patients with PCV and 150 age- and sex-matched controls. PCV was classified into two phenotypes (Type 1 and Type 2) according to the presence or absence of the feeding vessels found in indocyanine-green angiography. The single nucleotide polymorphism (SNP) at rs10490924 (A69S) in ARMS2 and rs800292 (I62V), rs1061170 (Y402H) in the CFH region were genotyped using the TaqMan assay. Results: The minor allele frequency (MAF) of rs10490924 was significantly different between Type 1 PCV (n = 81) and control (p < 0.0001), while no difference was found between Type 2 PCV (n = 94) and control (p = 0.20). The MAF of rs800292 was significantly different between each type of PCV and control (p < 0.0001 and 0.0001 for Type 1 versus control and Type 2 versus control, respectively). The MAF of rs1061170 was not significantly different between either type of PCV and control (p = 0.084 and 0.15, respectively). Conclusions: There may be significantly different associations in the genetic variants of ARMS2 between two angiographic phenotypes of PCV.