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Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting
 

Summary: Genetic susceptibility to age-related macular
degeneration: a paradigm for dissecting
complex disease traits
Anand Swaroop1,2,*, Kari EH Branham1
, Wei Chen3
and Goncalo Abecasis3,*
1
Departments of Ophthalmology and Visual Sciences, 2
Department of Human Genetics and 3
Department of
Biostatistics, University of Michigan, Ann Arbor, MI 48105, USA
Received July 20, 2007; Revised July 20, 2007; Accepted July 26, 2007
Age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of
life for millions of elderly individuals worldwide. AMD is associated with a diverse spectrum of clinical phe-
notypes, all of which include the death of photoreceptors in the central part of the human retina (called the
macula). Tremendous progress has been made in identifying genetic susceptibility variants for AMD.
Variants at chromosome 1q32 (in the region of CFH ) and 10q26 (LOC387715/ARMS2) account for a large
part of the genetic risk to AMD and have been validated in numerous studies. In addition, susceptibility var-
iants at other loci, several as yet unidentified, make substantial cumulative contribution to genetic risk for
AMD; among these, multiple studies support the role of variants in APOE and C2/BF genes. Genome-wide

  

Source: Abecasis, Goncalo - Department of Biostatistics, University of Michigan

 

Collections: Biology and Medicine; Mathematics