<i>CFH</i> and <i>VIPR2</i> as susceptibility loci in choroidal thickness and pachychoroid disease central serous chorioretinopathy

Abstract

Central serous chorioretinopathy (CSC) is a common disease affecting younger people and may lead to vision loss. CSC shares phenotypic overlap with age-related macular degeneration (AMD). As recent studies have revealed a characteristic increase of choroidal thickness in CSC, we conducted a genome-wide association study on choroidal thickness in 3,418 individuals followed by TaqMan assays in 2,692 subjects, and we identified two susceptibility loci: <i>CFH</i> rs800292, an established AMD susceptibility polymorphism, and <i>VIPR2</i> rs3793217 (<i>P</i> = 2.05 × 10^-10 and 6.75 × 10^-8, respectively). Case-control studies using patients with CSC confirmed associations between both polymorphisms and CSC (<i>P</i> = 5.27 × 10^-5 and 5.14 × 10^-5, respectively). The <i>CFH</i> rs800292 G allele is reportedly a risk allele for AMD, whereas the A allele conferred risk for thicker choroid and CSC development. This study not only shows that susceptibility genes for CSC could be discovered using choroidal thickness as a defining variable but also, deepens the understanding of differences between CSC and AMD pathophysiology.