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Human Molecular Genetics 2007 16(R2):R174-R182; doi:10.1093/hmg/ddm212
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© 2007 The Author(s)
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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

* To whom correspondence should be addressed. Email: swaroop{at}umich.edu; Goncalo{at}umich.edu

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 phenotypes, 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 variants 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 association and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal relationships that connect genetic variants to AMD pathogenesis and should assist in better design of prevention and intervention.


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I. Kaur, S. Katta, A. Hussain, N. Hussain, A. Mathai, R. Narayanan, A. Hussain, R. K. Reddy, A. B. Majji, T. Das, et al.
Variants in the 10q26 Gene Cluster (LOC387715 and HTRA1) Exhibit Enhanced Risk of Age-Related Macular Degeneration along with CFH in Indian Patients
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