期刊
COMMUNICATIONS BIOLOGY
卷 2, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/s42003-019-0430-6
关键词
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资金
- Stanford Center for Computational, Evolutionary and Human Genomics Predoctoral Fellowship
- National Key R&D Program of China [2016YFD0400800]
- Edward Mallinckrodt Jr. Foundation
- NIH [R33HL120757, U01HG009431, R01MH101814, R01HG008150]
- Macular Degeneration Research Program of the BrightFocus Foundation
- Foundation Fighting Blindness
- [T32EY20485]
- [R01EY025790]
- [P30EY026877]
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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