Elastin Variants in Two Angiographic PCV Subtypes

Objective To compare the association of elastin (ELN) gene variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV). Methods We 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. Results In 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. Conclusions There may be significantly different associations in genetic variants of elastin between two angiographic phenotypes of PCV

A Common Complement C3 Variant Is Associated with Protection against Wet Age-Related Macular Degeneration in a Japanese Population

博士（医学）神戸大

The Association of <i>Elastin</i> Gene Variants with Two Angiographic Subtypes of Polypoidal Choroidal Vasculopathy

<div><p>Objective</p><p>To compare the association of <i>elastin (ELN)</i> gene variants between two different angiographic phenotypes of polypoidal choroidal vasculopathy (PCV).</p><p>Methods</p><p>We 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 <i>ELN</i> region including rs868005, rs884843, rs2301995, rs13239907 and rs2856728 were genotyped using TaqMan Genotyping Assays.</p><p>Results</p><p>In 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.</p><p>Conclusions</p><p>There may be significantly different associations in genetic variants of <i>elastin</i> between two angiographic phenotypes of PCV.</p></div

Position and linkage disequilibrium (LD) plot for 5 tag SNPs.

<p>LD values are presented by (A) D’ and (B) r².</p