Cited by 182Retinal Diseases and TreatmentsGenetic Associations and EpidemiologyRetinal Development and Disorders

Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease

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Abecasis, Gonçalo R., Yashar, Beverly M., Zhao, Yu, Ghiasvand, Noor M., Zareparsi, Sepideh, Branham, Kari E.H., Reddick, Adam C., Trager, Edward H. +10 more·2004·The American Journal of Human Genetics

Abstract

Age-related macular degeneration (AMD) is a complex multifactorial disease that affects the central region of the retina. AMD is clinically heterogeneous, leading to geographic atrophy (GA) and/or choroidal neovascularization (CNV) at advanced stages. Considerable data exists in support of a genetic predisposition for AMD. Recent linkage studies have provided evidence in favor of several AMD susceptibility loci. We have performed a high-resolution (5-cM) genome scan of 412 affected relative pairs that were enriched for late-stage disease (GA and/or CNV). Nonparametric linkage analysis was performed using two different diagnostic criteria and also by dividing the affected individuals according to GA or CNV phenotype. Our results demonstrate evidence of linkage in regions that were suggested in at least one previous study at chromosomes 1q (236-240 cM in the Marshfield genetic map), 5p (40-50 cM), and 9q (111 cM). Multipoint analysis of affected relatives with CNV provided evidence of additional susceptibility loci on chromosomes 2p (10 cM) and 22q (25 cM). A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls. Our results consolidate the chromosomal locations of several AMD susceptibility loci and, together with previous reports, should facilitate the search for disease-associated sequence variants.

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Authors
Abecasis, G. R., Yashar, B. M., Zhao, Y., Ghiasvand, N. M., Zareparsi, S., Branham, K. E. H., Reddick, A. C., Trager, E. H., Yoshida, S., Bahling, J., Filippova, E., Elner, S., Johnson, M. W., Vine, A. K., Sieving, P. A., Jacobson, S. G., Richards, J. E., & Swaroop, A.
Affiliations
  • University of Michigan (US)
  • University of Pennsylvania (US)
Corresponding author
Swaroop, Anand
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2004-03
Volume
74
Issue
3
Pages
482-494
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2168511422
Cited by
182
References
50
Citations by year
2026: 1 · 2025: 1 · 2024: 2 · 2022: 2 · 2021: 6 · 2020: 4 · 2019: 3 · 2018: 1 · 2017: 2 · 2016: 11 · 2015: 2 · 2014: 5 · 2013: 13 · 2012: 8
FWCI
29.98
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • American Federation for Aging Research
  • Foundation Fighting Blindness
  • Research to Prevent Blindness
  • Macula Vision Research Foundation
  • National Institutes of Health
  • National Heart, Lung, and Blood Institute
  • National Eye Institute (F32EY014085)
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Keywords
age-related macular degeneration, genetic susceptibility loci, geographic atrophy, choroidal neovascularization, nonparametric linkage analysis, affected relative pairs, multipoint linkage analysis
MeSH terms
Aging, Chromosome Mapping, Humans, Macular Degeneration, Statistics, Nonparametric, Genetic Predisposition to Disease

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