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: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio?=?1.35, P?=?1.26?×?10-13; rs6061548, odds ratio?=?1.63, P?=?5.36?×?10-15). A T allele at TNFRSF10A-LOC389641 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.

SUBMITTER: Hosoda Y 

PROVIDER: S-EPMC6908630 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature