ArticleAmerican journal of human genetics2003
Age-related macular degeneration--a genome scan in extended families.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 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
71 citing papers in PubMed, 202 citations in OpenAlex.
- Epigenetic Alterations in Age-Related Macular Degeneration: Mechanisms and Implications.International journal of molecular sciences · 2025Review
- The Impact ofInternational journal of molecular sciences · 2024Article
- Article
- Ultra-rare complement factor 8 coding variants in families with age-related macular degeneration.iScience · 2023Article
- Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degeneration.Experimental eye research · 2021Review
- Differential and Altered Spatial Distribution of Complement Expression in Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2021Article
- Associations between the Complement System and Choroidal Neovascularization in Wet Age-Related Macular Degeneration.International journal of molecular sciences · 2020Review
- Age-related Macular Degeneration: Nutrition, Genes and Deep Learning-The LXXVI Edward Jackson Memorial Lecture.American journal of ophthalmology · 2020Article
- Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.Human molecular genetics · 2020Article
- NEI-Supported Age-Related Macular Degeneration Research: Past, Present, and Future.Translational vision science & technology · 2020Article
- Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group.BMC medical genetics · 2019Article
- Tissue linkage through adjoining basement membranes: The long and the short term of it.Matrix biology : journal of the International Society for Matrix Biology · 2019Review
- Genomic and Phenomic Research in the 21st Century.Trends in genetics : TIG · 2019Review
- Complement factor H in AMD: Bridging genetic associations and pathobiology.Progress in retinal and eye research · 2018Review
- The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Molecular immunology · 2017Review
- Recent developments in age-related macular degeneration: a review.Clinical interventions in aging · 2017Review
- AMD and the alternative complement pathway: genetics and functional implications.Human genomics · 2016Review
- The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review.Journal of clinical medicine · 2016Review
- 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
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
We performed a genomewide scan and genetic linkage analysis, to identify loci associated with age-related macular degeneration (AMD). We collected 70 families, ranging from small nuclear families to extended multigenerational pedigrees and consisting of a total of 344 affected and 217 unaffected members available for genotyping. We performed linkage analyses using parametric and allele-sharing models. We performed the analyses on the complete pedigrees but also subdivided the families into nuclear pedigrees. Finally, to dissect potential genetic factors responsible for differences in disease manifestation, we stratified the sample by two major AMD phenotypes (neovascular AMD and geographic atrophy) and by age of affected family members at the time of our evaluation. We have previously demonstrated linkage between AMD and 1q25-31 in a single large family. In the combined sample, we have detected the following loci with scores exceeding a LOD=2 cutoff under at least one of the models considered: 1q31 (HLOD=2.07 at D1S518), 3p13 (HLOD=2.19 at D3S1304/D3S4545), 4q32 (HLOD=2.66 at D4S2368, for the subset of families with predominantly dry AMD), 9q33 (LODZlr=2.01 at D9S930/D9S934), and 10q26 (HLOD=3.06 at D10S1230). Using correlation analysis, we have found a statistically significant correlation between LOD scores at 3p13 and 10q26, providing evidence for epistatic interactions between the loci and, hence, a complex basis of AMD. Our study has identified new loci that should be considered in future mapping and mutational analyses of AMD and has strengthened the evidence in support of loci suggested by other studies.
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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.