Abstract

Age-related macular degeneration (AMD) is the most common cause of visual loss in older Americans and a leading cause of blindness. Heredity, diet, and environmental factors have been identified as risk factors for AMD in population studies. Genetic linkage studies recently identified loci containing AMD-causing genes on chromosomes 1 and 17. The goals of this proposal are to identify novel genes involved in the pathogenesis of AMD and localize additional genes for this complex trait. Specifically, we propose to refine the localization of AMD-causing genes using allele and haplotype association employing single nucleotide polymorphisms. The refined critical regions will be used as starting points for candidate gene mutation scanning. A genome-wide search for macular degeneration loci will be performed using allele association and a pooling strategy for cost effectiveness. The identification of genetic risk factors for AMD is an important step in understanding the pathophysiology of this debilitating condition.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
7R01EY014467-03
Application #
7021058
Study Section
Special Emphasis Panel (ZRG1-VISC (01))
Program Officer
Chin, Hemin R
Project Start
2003-09-02
Project End
2008-08-31
Budget Start
2005-07-01
Budget End
2005-08-31
Support Year
3
Fiscal Year
2004
Total Cost
$298,434
Indirect Cost

  Institution

Name
Institute for Retina Research
Department
Type
DUNS #
136729790
City
Rochester
State
MN
Country
United States
Zip Code
55905

  Publications

Pattnaik, Bikash R; Tokarz, Sara; Asuma, Matti P et al. (2013) Snowflake vitreoretinal degeneration (SVD) mutation R162W provides new insights into Kir7.1 ion channel structure and function. PLoS One 8:e71744
Wieben, Eric D; Aleff, Ross A; Tosakulwong, Nirubol et al. (2012) A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS One 7:e49083
Kubista, Katharina E; Tosakulwong, Nirubol; Wu, Yanhong et al. (2011) Copy number variation in the complement factor H-related genes and age-related macular degeneration. Mol Vis 17:2080-92
Baratz, Keith H; Tosakulwong, Nirubol; Ryu, Euijung et al. (2010) E2-2 protein and Fuchs's corneal dystrophy. N Engl J Med 363:1016-24
Hecker, Laura A; Edwards, Albert O; Ryu, Euijung et al. (2010) Genetic control of the alternative pathway of complement in humans and age-related macular degeneration. Hum Mol Genet 19:209-15
Hecker, Laura A; Edwards, Albert O (2010) Genetic control of complement activation in humans and age related macular degeneration. Adv Exp Med Biol 703:49-62
Ryu, Euijung; Fridley, Brooke L; Tosakulwong, Nirubol et al. (2010) Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study. Mol Vis 16:2811-21
Maharvi, Ghulam M; Edwards, Albert O; Fauq, Abdul H (2010) Chemical synthesis of deuterium-labeled and unlabeled very long chain polyunsaturated fatty acids. Tetrahedron Lett 51:6426-6428
Park, Kyu Hyung; Ryu, Euijung; Tosakulwong, Nirubol et al. (2009) Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects. Mol Vis 15:200-7
Schmid-Kubista, Katharina E; Tosakulwong, Nirubol; Wu, Yanhong et al. (2009) Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration. Invest Ophthalmol Vis Sci 50:5070-9

Showing the most recent 10 out of 25 publications