Abstract

Glaucoma is one of the leading causes of blindness in this country and little is understood about the underlying mechanisms which lead to visual field loss. The long-range goal of this project is to advance our understanding of the causes of glaucoma. The specific goal of this proposal is to clone the region containing the gene for an autosomal dominant juvenile onset form of glaucoma. We are studying a large family in which about 50% of all descendants of affected members are also affected with early onset glaucoma. Clinical information and samples will be collected and used in a genetic linkage study to determine the location of the gene. Based on that location, a positional cloning approach including the use of yeast artificial chromosomes will be employed to clone the region containing the gene which is defective in the affected individuals. The location of possible genes within the cloned region will be identified. The cloning of a glaucoma gene will provide novel insights into the biochemical and cellular mechanisms of the disease and provide tools for improved diagnosis and a more informed pharmacologic approach to therapy.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY009580-03
Application #
2163224
Study Section
Visual Sciences A Study Section (VISA)
Project Start
1992-09-30
Project End
1995-12-07
Budget Start
1994-09-30
Budget End
1995-12-07
Support Year
3
Fiscal Year
1994
Total Cost
Indirect Cost

  Institution

Name
University of Michigan Ann Arbor
Department
Ophthalmology
Type
Schools of Medicine
DUNS #
791277940
City
Ann Arbor
State
MI
Country
United States
Zip Code
48109

  Publications

Bailey, Jessica N Cooke; Gharahkhani, Puya; Kang, Jae H et al. (2018) Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Invest Ophthalmol Vis Sci 59:629-636
Khawaja, Anthony P; Cooke Bailey, Jessica N; Wareham, Nicholas J et al. (2018) Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nat Genet 50:778-782
Pasquale, Louis R (2016) Vascular and autonomic dysregulation in primary open-angle glaucoma. Curr Opin Ophthalmol 27:94-101
Li, Zheng; Allingham, R Rand; Nakano, Masakazu et al. (2015) A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet 24:3880-92
Kang, J H; Loomis, S J; Yaspan, B L et al. (2014) Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye (Lond) 28:662-71
Springelkamp, Henriët; Höhn, René; Mishra, Aniket et al. (2014) Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun 5:4883
Loomis, Stephanie J; Kang, Jae H; Weinreb, Robert N et al. (2014) Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology 121:508-16
Garnai, Sarah J; Huyghe, Jeroen R; Reed, David M et al. (2014) Congenital cataracts: de novo gene conversion event in CRYBB2. Mol Vis 20:1579-93
Liu, Yutao; Garrett, Melanie E; Yaspan, Brian L et al. (2014) DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Invest Ophthalmol Vis Sci 55:8251-8
Bailey, Jessica N Cooke; Yaspan, Brian L; Pasquale, Louis R et al. (2014) Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet 133:1319-30

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