Age-related macular degeneration (AMD) is a significant health problem that affects millions of individuals and is the most common cause of severe vision loss among individuals over age 50 in the U.S. (Rein et al. 2006). The influence of genetic variation on AMD is strong and through the application of recent technological advances the genetic etiology of risk for AMD is being deconstructed. Independent studies, including our own, have identified and confirmed variations in multiple genes that affect risk to AMD, including CFH, HTRA1/ARMS2, C2/CFB, and C3 (DeAngelis et al. 2007;Edwards et al. 2005;Haines et al. 2005;Jakobsdottir et al. 2005;Klein et al. 2005;Maller et al. 2006;Rivera et al. 2005;Schaumberg et al. 2007;Schmidt et al. 2006;Hageman et al. 2005;Yates et al. 2007;Maller et al. 2007). Variation in these genes explain a significant portion of the genetic risk for AMD and ongoing studies are continuing to identify additional such genes. Also important are environmental risk factors such as smoking, hormone therapy and diet that contribute to AMD risk both independently and through their interactions with genes (Schmidt et al. 2006;Schaumberg et al. 2007;Wang et al. 2009). Again, ongoing studies are teasing apart these contributions. However, risk is just one of the many facets of the overall genetic architecture of AMD. Disease progression and treatment response are two critical elements also influenced by genetic variation (Shuler, Jr. et al. 2007;Seddon et al. 2007;Francis et al. 2009). The goal of this proposal is to increase our understanding of the genetic etiology of progression and treatment response in AMD, both of which have been understudied. Identifying the genes underlying clinical outcomes is directly relevant to better directing current treatments and developing new and better treatments and regimens for those suffering this disabling disorder.

Public Health Relevance

Age-related macular degeneration (AMD) is a significant health problem that affects millions of individuals and is the most common cause of severe vision loss among individuals over age 50 in the U.S. The goal of this proposal is to increase our understanding of the genetic etiology of progression and treatment response in AMD, both of which have been understudied. Identifying the genes underlying clinical outcomes is directly relevant to better directing current treatments and developing new and better treatments and regimens for those suffering this disabling disorder.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY012118-12
Application #
8306861
Study Section
Special Emphasis Panel (ZEY1-VSN (02))
Program Officer
Shen, Grace L
Project Start
2000-06-15
Project End
2016-07-31
Budget Start
2012-08-01
Budget End
2013-07-31
Support Year
12
Fiscal Year
2012
Total Cost
$1,397,526
Indirect Cost
$364,484
Name
University of Miami School of Medicine
Department
Genetics
Type
Schools of Medicine
DUNS #
052780918
City
Coral Gables
State
FL
Country
United States
Zip Code
33146
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Liu, Yutao; Bailey, Jessica Cooke; Helwa, Inas et al. (2016) A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Invest Ophthalmol Vis Sci 57:3974-81
(2016) Erratum. Invest Ophthalmol Vis Sci 57:4528
Pasquale, Louis R (2016) Vascular and autonomic dysregulation in primary open-angle glaucoma. Curr Opin Ophthalmol 27:94-101
Butkiewicz, Mariusz; Cooke Bailey, Jessica N; Frase, Alex et al. (2016) Pathway analysis by randomization incorporating structure-PARIS: an update. Bioinformatics 32:2361-3
Sardell, Rebecca J; Persad, Patrice J; Pan, Samuel S et al. (2016) Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus. Invest Ophthalmol Vis Sci 57:6107-6115
Hoffman, Joshua D; van Grinsven, Mark J J P; Li, Chun et al. (2016) Genetic Association Analysis of Drusen Progression. Invest Ophthalmol Vis Sci 57:2225-31
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
Cooke Bailey, Jessica N; Pericak-Vance, Margaret A; Haines, Jonathan L (2014) Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. Cold Spring Harb Perspect Med 4:a017186

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