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

Commun Biol. 2019 Dec 12:2:468. doi: 10.1038/s42003-019-0712-z. eCollection 2019.

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.

Keywords: Genome-wide association studies; Retinal diseases.

MeSH terms

  • Alleles
  • Case-Control Studies
  • Central Serous Chorioretinopathy / epidemiology
  • Central Serous Chorioretinopathy / genetics*
  • Computational Biology / methods
  • Databases, Genetic
  • Europe / epidemiology
  • Female
  • Gene Expression
  • Genetic Loci*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Odds Ratio
  • Quantitative Trait Loci

Associated data

  • figshare/10.6084/m9.figshare.11136047.v1