Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy

Abstract

The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: <i>TNFRSF10A-LOC389641</i> and near <i>GATA5</i> (rs13278062, odds ratio = 1.35, <i>P</i> = 1.26 × 10^-13; rs6061548, odds ratio = 1.63, <i>P</i> = 5.36 × 10^-15). A T allele at <i>TNFRSF10A-LOC389641</i> rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.