International Age-related Macular Degeneration Genomics Consortium

The members of International Age-related Macular Degeneration Genomics Consortium (IAMDGC) have jointly assembled the largest collection of AMD case and control DNA in the world. The current efforts of the IAMDGC involve evaluating genomic data from the collective ~50,000 sample dataset genotyped on the Illumina HumanCoreExome chip, with additional GWAS and custom content. This study is designed to bridge the gap between association studies of common variants and sequencing studies of rare variants by simultaneously assessing both rare and common variation. The approximately 500,000 markers included on this array along with the more than 11 million subsequently imputed variants provide superior coverage of known disease susceptibility loci through intentional fine-mapping and improve the power for novel disease locus detection as this is the largest genomic analysis of AMD to date. These data will also support further analysis of the genetic architecture of AMD including more detailed analyses of genes, interactions, pathways, and phenotypes.


Recent News:

  • Link to GWAS summary statistics for recent AMD publication submission to Nature Genetics is now available: link
  • GWAS summary statistics are available through the NHGRI-EBI GWAS Catalog. These can be found through a link on the “Summary statistics” page and genome wide significant variants can also be extracted from the GWAS Catalog entry based on our results. These data are made available through EMBL-EBI’s standard terms of use.