Journal article
Retinal ganglion cell-specific genetic regulation in primary open-angle glaucoma
M Daniszewski, A Senabouth, HH Liang, X Han, GE Lidgerwood, D Hernández, P Sivakumaran, JE Clarke, SY Lim, JG Lees, L Rooney, L Gulluyan, E Souzeau, SL Graham, CL Chan, U Nguyen, N Farbehi, V Gnanasambandapillai, RA McCloy, L Clarke Show all
Cell Genomics | Published : 2022
Abstract
To assess the transcriptomic profile of disease-specific cell populations, fibroblasts from patients with primary open-angle glaucoma (POAG) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into retinal organoids and compared with those from healthy individuals. We performed single-cell RNA sequencing of a total of 247,520 cells and identified cluster-specific molecular signatures. Comparing the gene expression profile between cases and controls, we identified novel genetic associations for this blinding disease. Expression quantitative trait mapping identified a total of 4,443 significant loci across all cell types, 312 of which are specific to the r..
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Grants
Awarded by University of Melbourne
Funding Acknowledgements
We thank Vikrant Singh, Anthony Cook, Alison Conquest, and Dominik Kaczor-owski for providing technical support. This research was supported by National Health and Medical Research Council Practitioner Fellowships (A.W.H., J.E.C., and D.A.M.) , Senior Research Fellowship (A.P., 1154389; S.M.) , Career Development Fellowship (J.E.P., 1107599) and Investigator Fellowship (J.E.P., 117578) , an Australian Research Council Future Fellowship (A.P., FT140100047) , an International Postgraduate Research Scholarship & Research Training Program Scholarship (M.D.) , and by grants from the National Health and Medical Research Council (1150144 and 1143163) and the Australian Research Council (180101405) , the Joan and Peter Clemenger Foundation, the Goodridge Foundation, the Ophthalmic Research Institute of Australia, the BrightFocus Foundation, the Philip Neal bequest, Stem Cells Australia-the Australian Research Council Special Research Initiative in Stem Cell Science, the University of Melbourne, and Operational Infrastructure Support from the Victorian Government.