ArticleAmerican journal of human genetics2003
A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions.
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 78 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
78 citing papers in PubMed, 4 syntheses or guidelines pooled it, 208 citations in OpenAlex.
- Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.Human molecular genetics · 2016Pooled it
- Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.Ophthalmology · 2012Pooled it
- Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.Human molecular genetics · 2011Pooled it
- LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis.Molecular vision · 2010Pooled it
- Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.Scientific reports · 2016Trial
- Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degeneration.Experimental eye research · 2021Review
- The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.Human molecular genetics · 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
- Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.Human genetics · 2019Article
- Complement factor H in AMD: Bridging genetic associations and pathobiology.Progress in retinal and eye research · 2018Review
- Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.Investigative ophthalmology & visual science · 2017Article
- The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Molecular immunology · 2017Review
- Association of the Intestinal Microbiome with the Development of Neovascular Age-Related Macular Degeneration.Scientific reports · 2017Article
- The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review.Journal of clinical medicine · 2016Review
- Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.Human molecular genetics · 2015Article
- Vitamin D: Implications for ocular disease and therapeutic potential.Experimental eye research · 2015Review
- 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
- Nature and nurture- genes and environment- predict onset and progression of macular degeneration.Progress in retinal and eye research · 2014Review
18 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
5 authors at 3 institutions in 1 country.
Funding
Abstract
We report the results of a genomewide scan for age-related macular degeneration (AMD) in 158 multiplex families. AMD classification was based on fundus photography and was assigned a grade ranging from 1 (no disease) to 5 (exudative disease). Genotyping was performed by the National Heart, Lung, and Blood Institute Mammalian Genotyping Service at Marshfield (404 short tandem repeat markers). The sample included 158 families with two or more siblings with AMD, 490 affected individuals, 101 unaffected individuals, and 38 whose affection status was unknown. Relative pairs included 511 affected sibling, 28 avuncular, 53 cousin, 7 grandparent-grandchild, and 9 grand-avuncular pairs. Two-point parametric and multipoint parametric and nonparametric analyses were performed. Maximum two-point LOD scores of 1.0-2.0 were found for markers on chromosomes 1, 2, 8, 10, 14, 15, and 22. Multipoint analyses were consistent with the two-point results for chromosomes 1, 2, 8, 10, and 22 and provided evidence for additional linkage regions on chromosomes 3, 6, 8, 12, 16, and X. Our signals on chromosomes 1q, 6p, and 10q are consistent with some other previously published results. Significant linkage to AMD was found for one marker on chromosome 2, two adjacent markers on chromosome 3, two adjacent markers on chromosome 6, and seven contiguous markers on chromosome 8, with empirical P values of .00001. The consistency of many of the other signals across both two-point and multipoint, as well as parametric and nonparametric, analyses indicate several other regions worthy of follow-up.
Indexed as
Identifiers
What OpenQuestion holds
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.