Journal article
Transcriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
A Senabouth, M Daniszewski, GE Lidgerwood, HH Liang, D Hernández, M Mirzaei, SN Keenan, R Zhang, X Han, D Neavin, L Rooney, MIG Lopez Sanchez, L Gulluyan, JA Paulo, L Clarke, LS Kearns, V Gnanasambandapillai, CL Chan, U Nguyen, AM Steinmann Show all
Nature Communications | NATURE PORTFOLIO | Published : 2022
Abstract
There are currently no treatments for geographic atrophy, the advanced form of age-related macular degeneration. Hence, innovative studies are needed to model this condition and prevent or delay its progression. Induced pluripotent stem cells generated from patients with geographic atrophy and healthy individuals were differentiated to retinal pigment epithelium. Integrating transcriptional profiles of 127,659 retinal pigment epithelium cells generated from 43 individuals with geographic atrophy and 36 controls with genotype data, we identify 445 expression quantitative trait loci in cis that are asssociated with disease status and specific to retinal pigment epithelium subpopulations. Trans..
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Grants
Awarded by University of Melbourne
Funding Acknowledgements
We thank all participants who donated skin biopsies. This research was supported by National Health and Medical Research Council (NHMRC) Practitioner Fellowship (A.W.H.), Senior Research Fellowship (A.P., 1154389; S.M., 1154543), and Investigator grant (J.E.P., 1175781), by research grants from the Macular Disease Foundation Australia (R.H.G., A.W.H., J.E.P., and A.P.), the NHMRC (research grant 1059369, R.H.G., A.P., synergy grant 1181010, R.H.G. and A.P.), the DHB Foundation (G.E.L. and A.P.), retina Australia (A.W.H. and A.P.), Australian Vision Research (G.E.L., A.W.H., and A.P.), the Medical Research Future Fund-Stem Cell Therapies Mission (G.E.L., A.W.H., and A.P., MRF1200678), NIH/NIGMS grant R01 (J.A.P., GM132129), the University of Melbourne and Operational Infrastructure Support from the Victorian Government.