Novel Loci Associated with AMD Identified

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Twelve novel loci associated with age-related macular degeneration (AMD) have been identified, adding to the understanding of the biological process of AMD, according to new study results.  

In this meta-analysis of genome-wide association studies (GWAS) data was combined from the following

  • International AMD Genomics Consortium AMD-2016 GWAS–16,144 advanced AMD cases and 17,832 controls
  • AMD-2013 GWAS–17,181 cases and 60,074 controls
  • Genetic Epidemiology Research on Aging study– 4017 AMD cases and 14,984 controls

Twelve novel AMD loci were identified near or within C4BPA-CD55, ZNF385B, ZBTB38, NFKB1, LINC00461, ADAM19, CPN1, ACSL5, CSK, RLBP1, CLUL1, and LBP.

Using 5860 cases and 126,726 controls from the UK Biobank and 1266 cases and 47,560 control from FinnGen, the associations of the new loci were replicated in independent cohorts.

The authors concluded that most of the “Most of the novel genes are expressed in retinal tissue and could be involved in the pathogenesis of AMD (i.e., complement, inflammation, and lipid pathways).”



Han X, Gharahkhani P, Mitchell P, Liew G, Hewitt AW, MacGregor S. Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration [published online ahead of print, 2020 Apr 10]. J Hum Genet. 2020;10.1038/s10038-020-0750-x. doi:10.1038/s10038-020-0750-x.

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