Abstract

Age-related macular degeneration (ARM) is a major cause of vision loss in the elderly. It is thought that smoking and diet may contribute to the risk of developing the condition but it is clear that heredity plays a major role. Variations in two genes, CFH and PLEKHA1/LOC387715, have been found to strongly contribute to the risk of developing ARM, but there are additional genes that probably influence a person's chances of having this condition and how they will progress to vision loss. We are investigating the genetic variations ? that contribute to ARM so that we can eventually understand the causes of this complex condition. We study the genetic variations (SNPs) that are shared among ARM-affected individuals within families as well as compare the frequencies of genetic variations in ARM-affected individuals with those in unaffected persons who are matched in age, gender, and exposures. We are conducting studies with the DNA from our current research participants as well as developing a prospective study of high-risk family members and their spouses to evaluate genetic risks and presymptomatic retinal changes. Our long-term goals are to develop new preventive therapies that can slow or halt the development of this disease and to be able to provide these treatments to those who are at greatest risk before they experience vision-threatening changes. ? ? ?

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
2R01EY009859-13
Application #
7211884
Study Section
Genetics of Health and Disease Study Section (GHD)
Program Officer
Chin, Hemin R
Project Start
1993-09-01
Project End
2012-03-31
Budget Start
2007-04-01
Budget End
2008-03-31
Support Year
13
Fiscal Year
2007
Total Cost
$1,081,417
Indirect Cost

  Institution

Name
University of California Los Angeles
Department
Ophthalmology
Type
Schools of Medicine
DUNS #
092530369
City
Los Angeles
State
CA
Country
United States
Zip Code
90095

  Publications

Nusinowitz, S; Wang, Y; Kim, P et al. (2018) Retinal Structure in Pre-Clinical Age-Related Macular Degeneration. Curr Eye Res 43:376-382
Shan, Ying; Tromp, Gerard; Kuivaniemi, Helena et al. (2017) Genetic risk models: Influence of model size on risk estimates and precision. Genet Epidemiol 41:282-296
Lo, Yancy; Kang, Hyun M; Nelson, Matthew R et al. (2015) Comparing variant calling algorithms for target-exon sequencing in a large sample. BMC Bioinformatics 16:75
Bui, Diem K; Jiang, Yingda; Wei, Xin et al. (2015) Genetic ME-a visualization application for merging and editing pedigrees for genetic studies. BMC Res Notes 8:241
Baron, Robert V; Conley, Yvette P; Gorin, Michael B et al. (2015) dbVOR: a database system for importing pedigree, phenotype and genotype data and exporting selected subsets. BMC Bioinformatics 16:91
Gorin, Michael B; Weeks, Daniel E; Baron, Robert V et al. (2014) Endophenotypes for Age-Related Macular Degeneration: Extending Our Reach into the Preclinical Stages of Disease. J Clin Med 3:1335-56
Ratnapriya, Rinki; Zhan, Xiaowei; Fariss, Robert N et al. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet 23:5827-37
Zhan, Xiaowei; Larson, David E; Wang, Chaolong et al. (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet 45:1375-9
Sofat, Reecha; Casas, Juan P; Webster, Andrew R et al. (2012) Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol 41:250-62
Gorin, Michael B (2012) Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics. Mol Aspects Med 33:467-86

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