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Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms.
Liu, Boxiang; Calton, Melissa A; Abell, Nathan S; Benchorin, Gillie; Gloudemans, Michael J; Chen, Ming; Hu, Jane; Li, Xin; Balliu, Brunilda; Bok, Dean; Montgomery, Stephen B; Vollrath, Douglas.
Affiliation
  • Liu B; 1Department of Biology, Stanford University, Stanford, CA 94305 USA.
  • Calton MA; 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Abell NS; 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Benchorin G; 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Gloudemans MJ; 3Program in Biomedical Informatics, Stanford University School of Medicine, Stanford, 94305 CA USA.
  • Chen M; 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Hu J; 4Department of Ophthalmology, Jules Stein Eye Institute, UCLA, Los Angeles, 90095 CA USA.
  • Li X; 5Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Balliu B; 5Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Bok D; 4Department of Ophthalmology, Jules Stein Eye Institute, UCLA, Los Angeles, 90095 CA USA.
  • Montgomery SB; 2Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 USA.
  • Vollrath D; 5Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305 USA.
Commun Biol ; 2: 186, 2019.
Article in En | MEDLINE | ID: mdl-31123710
The retinal pigment epithelium (RPE) serves vital roles in ocular development and retinal homeostasis but has limited representation in large-scale functional genomics datasets. Understanding how common human genetic variants affect RPE gene expression could elucidate the sources of phenotypic variability in selected monogenic ocular diseases and pinpoint causal genes at genome-wide association study (GWAS) loci. We interrogated the genetics of gene expression of cultured human fetal RPE (fRPE) cells under two metabolic conditions and discovered hundreds of shared or condition-specific expression or splice quantitative trait loci (e/sQTLs). Co-localizations of fRPE e/sQTLs with age-related macular degeneration (AMD) and myopia GWAS data suggest new candidate genes, and mechanisms by which a common RDH5 allele contributes to both increased AMD risk and decreased myopia risk. Our study highlights the unique transcriptomic characteristics of fRPE and provides a resource to connect e/sQTLs in a critical ocular cell type to monogenic and complex eye disorders.
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Full text: 1 Database: MEDLINE Main subject: Retinal Pigment Epithelium Type of study: Etiology_studies / Risk_factors_studies Limits: Humans Language: En Journal: Commun Biol Year: 2019 Type: Article

Full text: 1 Database: MEDLINE Main subject: Retinal Pigment Epithelium Type of study: Etiology_studies / Risk_factors_studies Limits: Humans Language: En Journal: Commun Biol Year: 2019 Type: Article