Genetics of Age-Related Macular Degeneration
Age-related macular degeneration (AMD) is the most
common cause of visual loss in older Americans and a leading cause of
blindness. Approximately 1.7 million of the 34 million people over the
age of 65 in the United States experience vision loss from AMD. 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 study are to identify novel genes involved in the pathogenesis
of AMD and localize additional genes for this complex trait. Specifically,
we attempt 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. The identification of genetic risk factors for
AMD is an important step in understanding the pathophysiology of this
debilitating condition.
This study is being performed in collaboration with
Dr. Albert O. Edwards, M.D., Ph.D., Director, Schollmaier Macular Degeneration
Laboratory, Department of Ophthalmology, University of Texas Southwestern
Medical Center, Dallas, TX
Faculty Who Conduct Research in this Area
Lindsay A. Farrer, Ph.D.
Carolien Panhuysen, M.D., Ph.D.
BU Spotlight Article
Genetic Key to Blindness
Selected Publications
Klein ML, Schultz DW, Edwards A, et al. Age-related
macular degeneration. Clinical features in a large family and linkage
to chromosome 1q. Arch Ophthalmol. 1998 Aug;116(8):1082-8
Weeks DE, Conley YP, Mah TS, et al. A full genome scan
for age-related maculopathy. Hum Mol Genet. 2000;9(9):1329-49
Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy:
an expanded genome-wide scan with evidence of susceptibility loci within
the 1q31 and 17q25 regions. Am J Ophthalmol. 2001;132(5):682-92.
Edwards AO, Ritter, III R, Abel K J, Manning A, Panhuysen C, Farrer L A. Complement Factor H Polymorphism and Age-Related Macular Degeneration. Science 2005 0: 1110189.
