A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

Nat Genet. 2015 Apr;47(4):387-92. doi: 10.1038/ng.3226. Epub 2015 Feb 23.

Abstract

Exfoliation syndrome (XFS) is the most common recognizable cause of open-angle glaucoma worldwide. To better understand the etiology of XFS, we conducted a genome-wide association study (GWAS) of 1,484 cases and 1,188 controls from Japan and followed up the most significant findings in a further 6,901 cases and 20,727 controls from 17 countries across 6 continents. We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16, P = 3.36 × 10(-11)). Although we also confirmed overwhelming association at the LOXL1 locus, the key SNP marker (LOXL1 rs4886776) demonstrated allelic reversal depending on the ancestry group (Japanese: OR(A allele) = 9.87, P = 2.13 × 10(-217); non-Japanese: OR(A allele) = 0.49, P = 2.35 × 10(-31)). Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Asian People / genetics
  • Asian People / statistics & numerical data
  • Calcium Channels / genetics*
  • Case-Control Studies
  • Chromosome Mapping
  • Exfoliation Syndrome / epidemiology
  • Exfoliation Syndrome / genetics*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Glaucoma, Open-Angle / epidemiology
  • Glaucoma, Open-Angle / genetics
  • HEK293 Cells
  • HeLa Cells
  • Humans
  • Japan / epidemiology
  • MCF-7 Cells
  • Mice
  • Mice, Inbred C57BL
  • Polymorphism, Single Nucleotide*
  • Tumor Cells, Cultured

Substances

  • CACNA1A protein, human
  • Calcium Channels