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

SUBMITTER: Hosoda Y 

PROVIDER: S-EPMC6908630 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature