ArticleAmerican journal of human genetics2004
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
57 citing papers in PubMed, 181 citations in OpenAlex.
- Associations of Host Genetics and Plasma Proteomics with Incident Age-Related Macular Degeneration in Persons with AIDS.Ophthalmology science · 2026Article
- The Impact ofInternational journal of molecular sciences · 2024Article
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- Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration.International journal of molecular sciences · 2020Review
- Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.Human molecular genetics · 2020Article
- A pediatric perspective on genomics and prevention in the twenty-first century.Pediatric research · 2020Review
- The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain.Cells · 2019Review
- Genomic and Phenomic Research in the 21st Century.Trends in genetics : TIG · 2019Review
- The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Molecular immunology · 2017Review
- Age-related macular degeneration: genome-wide association studies to translation.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.Nature genetics · 2016Article
- MetaNetVar: Pipeline for applying network analysis tools for genomic variants analysis.F1000Research · 2016Article
- Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.Cold Spring Harbor perspectives in medicine · 2014Review
- Article
- Prognostic phenotypic and genotypic factors associated with photodynamic therapy response in patients with age-related macular degeneration.Clinical ophthalmology (Auckland, N.Z.) · 2014Article
- Age-related macular degeneration-clinical review and genetics update.Clinical genetics · 2013Review
- Genetic and functional dissection of ARMS2 in age-related macular degeneration and polypoidal choroidal vasculopathy.PloS one · 2013Article
- Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration.Molecular vision · 2013Article
- Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics.Molecular aspects of medicine · 2012Review
Corrections and comments
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Authors and funding
18 authors at 3 institutions in 2 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.