Nature Communications (Oct 2019)

Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration

  • Madhvi Menon,
  • Shahin Mohammadi,
  • Jose Davila-Velderrain,
  • Brittany A. Goods,
  • Tanina D. Cadwell,
  • Yu Xing,
  • Anat Stemmer-Rachamimov,
  • Alex K. Shalek,
  • John Christopher Love,
  • Manolis Kellis,
  • Brian P. Hafler

DOI
https://doi.org/10.1038/s41467-019-12780-8
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 9

Abstract

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“Genome-wide association studies have identified variants associated with age-related macular degeneration (AMD); however, other than identifying this as a complement mediated inflammatory disease, little biology has emerged. Here, authors used novel computational tools from the Broad Institute to examine the relationship of single-cell transcriptomics and genome-wide association studies (GWAS) in the human retina and demonstrate that GWAS-associated risk alleles associated with AMD are enriched in glia and vascular cells and that human retinal glia are more diverse than previously thought