Defining the genomic architecture of Age-related Macular Degeneration (AMD) to improve diagnosis, treatment, and prevention.
The members of the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) have jointly assembled the largest collection of AMD case and control DNA in the world.
Our work includes the evaluation of genomic data from the collective ~50,000 sample dataset genotyped on the Illumina HumanCoreExome chip, with additional GWAS and custom content from various other sources, including consortium members’ research libraries. The consortium has grown to include nearly 100,000 participants.
Our work bridges 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 the consortium’s 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 support the consortium’s analysis of the genetic architecture of AMD, including more detailed analyses of genes, interactions, pathways, and phenotypes.
The consortium’s GWAS summary statistics from the 2016 study published in Nature Genetics are available here.
Data from research investigating the modulation of genetic effects onlate AMD by age and sex, from the paper published in PLOS ONE in 2018, can be downloaded here.