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Shigeru Honda, Suihou Yanagisawa, Akiko Miki, Wataru Matsumiya, Akira Negi; The association of elastin gene variants with two angiographic subtypes of polypoidal choroidal vasculopathy. Invest. Ophthalmol. Vis. Sci. 2013;54(15):6181.
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© ARVO (1962-2015); The Authors (2016-present)
To compare the association of elastin gene variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).
We included 155 Japanese patients with PCV and 203 controls. PCV was classified into two phenotypes according to the presence (Type 1) or absence (Type 2) of the feeding vessels found in indocyanine-green angiography. The single nucleotide polymorphisms (SNPs) in the elastin region including rs3757584, rs2301995 and rs2856728 were genotyped using the TaqMan assay.
The minor allele frequency (MAF) of rs2301995 was significantly different between Type 2 PCV (21%, n=82) and control (17%) (p=0.0061), while no difference was found between Type 1 PCV (n=73) and control (p=0.25). Haplotype analysis revealed that the association of the haplotype (A-T-C) at rs3757584, rs2301995 and rs2856728 differed significantly between Type 2 PCV (25%) and control (17%) (p=0.027), while no difference was found between Type 1 PCV (20%) and control (p=0.40).
There may be significantly different association in genetic variants of elastin between two angiographic phenotypes of PCV.
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