作者
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
发表日期
2019/10/25
期刊
Nature communications
卷号
10
期号
1
页码范围
4902
出版商
Nature Publishing Group UK
简介
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 …
引用总数