Your browser doesn't support javascript.
loading
Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration.
Orozco, Luz D; Chen, Hsu-Hsin; Cox, Christian; Katschke, Kenneth J; Arceo, Rommel; Espiritu, Carmina; Caplazi, Patrick; Nghiem, Sarajane Saturnio; Chen, Ying-Jiun; Modrusan, Zora; Dressen, Amy; Goldstein, Leonard D; Clarke, Christine; Bhangale, Tushar; Yaspan, Brian; Jeanne, Marion; Townsend, Michael J; van Lookeren Campagne, Menno; Hackney, Jason A.
Affiliation
  • Orozco LD; Department of Bioinformatics and Computational Biology, Genentech, South San Francisco, CA 94080, USA.
  • Chen HH; Department of Biomarker Discovery OMNI, Genentech, South San Francisco, CA 94080, USA.
  • Cox C; Department of Immunology Discovery, Genentech, South San Francisco, CA 94080, USA.
  • Katschke KJ; Department of Immunology Discovery, Genentech, South San Francisco, CA 94080, USA.
  • Arceo R; Department of Pathology, Genentech, South San Francisco, CA 94080, USA.
  • Espiritu C; Department of Pathology, Genentech, South San Francisco, CA 94080, USA.
  • Caplazi P; Department of Pathology, Genentech, South San Francisco, CA 94080, USA.
  • Nghiem SS; Department of Pathology, Genentech, South San Francisco, CA 94080, USA.
  • Chen YJ; Department of Molecular Biology, Genentech, South San Francisco, CA 94080, USA.
  • Modrusan Z; Department of Molecular Biology, Genentech, South San Francisco, CA 94080, USA.
  • Dressen A; Department of Human Genetics, Genentech, South San Francisco, CA 94080, USA.
  • Goldstein LD; Department of Bioinformatics and Computational Biology, Genentech, South San Francisco, CA 94080, USA; Department of Molecular Biology, Genentech, South San Francisco, CA 94080, USA.
  • Clarke C; Department of Bioinformatics and Computational Biology, Genentech, South San Francisco, CA 94080, USA.
  • Bhangale T; Department of Human Genetics, Genentech, South San Francisco, CA 94080, USA.
  • Yaspan B; Department of Human Genetics, Genentech, South San Francisco, CA 94080, USA.
  • Jeanne M; Department of Immunology Discovery, Genentech, South San Francisco, CA 94080, USA.
  • Townsend MJ; Department of Biomarker Discovery OMNI, Genentech, South San Francisco, CA 94080, USA. Electronic address: townsem1@gene.com.
  • van Lookeren Campagne M; Department of Immunology Discovery, Genentech, South San Francisco, CA 94080, USA. Electronic address: mvanlook@amgen.com.
  • Hackney JA; Department of Bioinformatics and Computational Biology, Genentech, South San Francisco, CA 94080, USA. Electronic address: jasonah@gene.com.
Cell Rep ; 30(4): 1246-1259.e6, 2020 01 28.
Article in En | MEDLINE | ID: mdl-31995762
ABSTRACT
Age-related macular degeneration (AMD) is a leading cause of vision loss. To better understand disease pathogenesis and identify causal genes in GWAS loci for AMD risk, we present a comprehensive database of human retina and retinal pigment epithelium (RPE). Our database comprises macular and non-macular RNA sequencing (RNA-seq) profiles from 129 donors, a genome-wide expression quantitative trait loci (eQTL) dataset that includes macula-specific retina and RPE/choroid, and single-nucleus RNA-seq (NucSeq) from human retina and RPE with subtype resolution from more than 100,000 cells. Using NucSeq, we find enriched expression of AMD candidate genes in RPE cells. We identify 15 putative causal genes for AMD on the basis of co-localization of genetic association signals for AMD risk and eye eQTL, including the genes TSPAN10 and TRPM1. These results demonstrate the value of our human eye database for elucidating genetic pathways and potential therapeutic targets for ocular diseases.
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression Regulation / Disease Susceptibility / Retinal Pigment Epithelium / Macular Degeneration Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Cell Rep Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression Regulation / Disease Susceptibility / Retinal Pigment Epithelium / Macular Degeneration Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Cell Rep Year: 2020 Document type: Article Affiliation country: