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Nat Commun DOI:10.1038/s41467-019-12780-8

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

Publication TypeJournal Article
Year of Publication2019
AuthorsMenon, M, Mohammadi, S, Davila-Velderrain, J, Goods, BA, Cadwell, TD, Xing, Y, Stemmer-Rachamimov, A, Shalek, AK, Love, JChristophe, Kellis, M, Hafler, BP
JournalNat Commun
Date Published2019 Oct 25

Genome-wide association studies (GWAS) have identified genetic variants associated with age-related macular degeneration (AMD), one of the leading causes of blindness in the elderly. However, it has been challenging to identify the cell types associated with AMD given the genetic complexity of the disease. Here we perform massively parallel single-cell RNA sequencing (scRNA-seq) of human retinas using two independent platforms, and report the first single-cell transcriptomic atlas of the human retina. Using a multi-resolution network-based analysis, we identify all major retinal cell types, and their corresponding gene expression signatures. Heterogeneity is observed within macroglia, suggesting that human retinal glia are more diverse than previously thought. Finally, GWAS-based enrichment analysis identifies glia, vascular cells, and cone photoreceptors to be associated with the risk of AMD. These data provide a detailed analysis of the human retina, and show how scRNA-seq can provide insight into cell types involved in complex, inflammatory genetic diseases.


Alternate JournalNat Commun
PubMed ID31653841
Grant ListAI039671 / / U.S. Department of Health & Human Services | National Institutes of Health (NIH) /
EY026652 / / U.S. Department of Health & Human Services | National Institutes of Health (NIH) /