Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration | Zendy

Luz D. Orozco | Zendy; Hsu-Hsin Chen | Zendy; Christian L. Cox | Zendy; Kenneth J. Katschke | Zendy; Rommel Arceo | Zendy; Carmina Espiritu | Zendy; Patrick Caplazi | Zendy; Sarajane Saturnio Nghiem | Zendy; YingJiun Chen | Zendy; Zora Modrušan | Zendy; Amy Dressen | Zendy; Leonard D. Goldstein | Zendy; Christine Clarke | Zendy; Tushar Bhangale | Zendy; Brian L. Yaspan | Zendy; Marion Jeanne | Zendy; Michael J. Townsend | Zendy; Menno van Lookeren Campagne | Zendy; Jason A. Hackney | Zendy

Open Access

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration

Author(s) -

Luz D. Orozco,

Hsu-Hsin Chen,

Christian L. Cox,

Kenneth J. Katschke,

Rommel Arceo,

Carmina Espiritu,

Patrick Caplazi,

Sarajane Saturnio Nghiem,

YingJiun Chen,

Zora Modrušan,

Amy Dressen,

Leonard D. Goldstein,

Christine Clarke,

Tushar Bhangale,

Brian L. Yaspan,

Marion Jeanne,

Michael J. Townsend,

Menno van Lookeren Campagne,

Jason A. Hackney

Publication year - 2020

Publication title -

cell reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.264

H-Index - 154

eISSN - 2639-1856

pISSN - 2211-1247

DOI - 10.1016/j.celrep.2019.12.082

Subject(s) - expression quantitative trait loci , macular degeneration , biology , genome wide association study , genetics , gene , candidate gene , retina , retinal pigment epithelium , quantitative trait locus , computational biology , single nucleotide polymorphism , medicine , ophthalmology , neuroscience , genotype

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.

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