The Association of Age-related Maculopathy Susceptibility 2 (ARMS2) and Complement Factor H (CFH) Variants with Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy. (September 2013)

• Record Type: Journal Article
• Authors: Miki, Akiko; Honda, Shigeru; Kondo, Naoshi; Negi, Akira
• Is Part Of: Ophthalmic genetics. Volume 34:Number 3(2013:Sep.)
• Page Start: 146
• Page End: 150
• Publication Date: 2013-09
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2012.749288
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title>Abstract</title> <p> <italic>Purpose</italic>: To compare the association of <italic>age-related maculopathy susceptibility 2 (ARMS2)</italic> and <italic>complement factor H (CFH)</italic> variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).</p> <p> <italic>Methods</italic>: 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 <italic>ARMS2</italic> and rs800292 (I62V), rs1061170 (Y402H) in the <italic>CFH</italic> region were genotyped using the TaqMan assay.</p> <p> <italic>Results</italic>: The minor allele frequency (MAF) of rs10490924 was significantly different between Type 1 PCV (<italic>n</italic> = 81) and control (<italic>p</italic> < 0.0001), while no difference was found between Type 2 PCV (<italic>n</italic> = 94) and control (<italic>p</italic> = 0.20). The MAF of rs800292 was significantly different between each type of PCV and control (<italic>p</italic> < 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 (<italic>p</italic> = 0.084 and 0.15, respectively).</p> <p> <italic>Conclusions</italic>: There may be significantly different associations in the genetic variants of <italic>ARMS2</italic> between two angiographic phenotypes of PCV.</p> </abstract>