CCDC102B confers risk of low vision and blindness in high myopia

Nat Commun. 2018 May 3;9(1):1782. doi: 10.1038/s41467-018-03649-3.

Abstract

The incidence of high myopia is increasing worldwide with myopic maculopathy, a complication of myopia, often progressing to blindness. Our two-stage genome-wide association study of myopic maculopathy identifies a susceptibility locus at rs11873439 in an intron of CCDC102B (P = 1.77 × 10-12 and Pcorr = 1.61 × 10-10). In contrast, this SNP is not significantly associated with myopia itself. The association between rs11873439 and myopic maculopathy is further confirmed in 2317 highly myopic patients (P = 2.40 × 10-6 and Pcorr = 1.72 × 10-4). CCDC102B is strongly expressed in the retinal pigment epithelium and choroids, where atrophic changes initially occur in myopic maculopathy. The development of myopic maculopathy thus likely exhibits a unique background apart from the development of myopia itself; elucidation of the roles of CCDC102B in myopic maculopathy development may thus provide insights into preventive methods for blindness in patients with high myopia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Asian People
  • Blindness / complications
  • Blindness / ethnology
  • Blindness / genetics*
  • Blindness / pathology
  • Choroid / metabolism
  • Cohort Studies
  • Cytoskeletal Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Japan
  • Macula Lutea / pathology
  • Male
  • Middle Aged
  • Myopia / complications
  • Myopia / ethnology
  • Myopia / genetics*
  • Myopia / pathology
  • Polymorphism, Single Nucleotide
  • Retinal Pigment Epithelium / metabolism
  • Vision, Low / complications
  • Vision, Low / ethnology
  • Vision, Low / genetics*
  • Vision, Low / pathology

Substances

  • CCDC102B protein, human
  • Cytoskeletal Proteins