Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Sumana R. Chintalapudi; Doaa Maria; Xiang Di Wang; Jessica N. Cooke Bailey; NEIGHBORHOOD consortium; International Glaucoma Genetics consortium; Pirro G. Hysi; Janey L. Wiggs; Robert W. Williams; Monica M. Jablonski

doi:10.1038/s41467-017-00837-5

Nature Communications (Nov 2017)

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility

Sumana R. Chintalapudi,
Doaa Maria,
Xiang Di Wang,
Jessica N. Cooke Bailey,
NEIGHBORHOOD consortium,
International Glaucoma Genetics consortium,
Pirro G. Hysi,
Janey L. Wiggs,
Robert W. Williams,
Monica M. Jablonski

Affiliations

Sumana R. Chintalapudi: Department of Ophthalmology, The Hamilton Eye Institute, The University of Tennessee Health Science Center
Doaa Maria: Department of Ophthalmology, The Hamilton Eye Institute, The University of Tennessee Health Science Center
Xiang Di Wang: Department of Ophthalmology, The Hamilton Eye Institute, The University of Tennessee Health Science Center
Jessica N. Cooke Bailey: Department of Epidemiology and Biostatistics, Institute of Computational Biology, Case Western Reserve University School of Medicine
NEIGHBORHOOD consortium
International Glaucoma Genetics consortium
Pirro G. Hysi: Department of Twin Research and Genetic Epidemiology, King’s College London
Janey L. Wiggs: Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary
Robert W. Williams: Department of Ophthalmology, The Hamilton Eye Institute, The University of Tennessee Health Science Center
Monica M. Jablonski: Department of Ophthalmology, The Hamilton Eye Institute, The University of Tennessee Health Science Center

DOI: https://doi.org/10.1038/s41467-017-00837-5
Journal volume & issue: Vol. 8, no. 1
pp. 1 – 12

Abstract

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Elevated intraocular pressure (IOP) is a heritable risk factor for primary open angle glaucoma. Using forward mouse genetics, cell biology, pharmacology and human genetic data, the authors identify CACNA2D1 as an IOP risk gene that can be therapeutically targeted by the drug pregabalin in animal models.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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