Seven new loci associated with age-related macular degeneration Academic Article uri icon


MeSH Major

  • Biomarkers
  • Genetic Loci
  • Macular Degeneration
  • Polymorphism, Single Nucleotide


  • Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P < 5 × 10(-8). These loci show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Our results include seven loci with associations reaching P < 5 × 10(-8) for the first time, near the genes COL8A1-FILIP1L, IER3-DDR1, SLC16A8, TGFBR1, RAD51B, ADAMTS9 and B3GALTL. A genetic risk score combining SNP genotypes from all loci showed similar ability to distinguish cases and controls in all samples examined. Our findings provide new directions for biological, genetic and therapeutic studies of AMD.


publication date

  • April 2013



  • Academic Article



  • eng

PubMed Central ID

  • PMC3739472

Digital Object Identifier (DOI)

  • 10.1038/ng.2578

PubMed ID

  • 23455636

Additional Document Info

start page

  • 433

end page

  • 9, 439e1-2


  • 45


  • 4