SynthesisHuman molecular genetics2011
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Synthesis in Human molecular genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 9 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
151 citing papers in PubMed, 9 syntheses or guidelines pooled it, 255 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
- ABCA1 rs1883025 polymorphism and risk of age-related macular degeneration.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Pooled it
- Association of toll-like receptor 3 polymorphism rs3775291 with age-related macular degeneration: a systematic review and meta-analysis.Scientific reports · 2016Pooled it
- Association of PEDF polymorphisms with age-related macular degeneration and polypoidal choroidal vasculopathy: a systematic review and meta-analysis.Scientific reports · 2015Pooled it
- Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.Human molecular genetics · 2013Pooled it
- Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.PloS one · 2013Pooled it
- The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis.American journal of epidemiology · 2012Pooled it
- Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.Ophthalmology · 2012Pooled it
- Difference between age-related macular degeneration and polypoidal choroidal vasculopathy in the hereditary contribution of the A69S variant of the age-related maculopathy susceptibility 2 gene (ARMS2).Molecular vision · 2011Pooled it
- Imaging, Genetic, and Demographic Factors Associated With Conversion to Neovascular Age-Related Macular Degeneration: Secondary Analysis of a Randomized Clinical Trial.JAMA ophthalmology · 2019Trial
- Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.Journal of human genetics · 2018Trial
- Response to AREDS supplements according to genetic factors: survival analysis approach using the eye as the unit of analysis.The British journal of ophthalmology · 2016Trial
- Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.Scientific reports · 2016Trial
- A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.Human genetics · 2015Trial
- Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study.Investigative ophthalmology & visual science · 2014Trial
- Pharmacogenetic associations with long-term response to anti-vascular endothelial growth factor treatment in neovascular AMD patients.Molecular vision · 2014Trial
- Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report.Journal of translational medicine · 2013Trial
- Common variant in VEGFA and response to anti-VEGF therapy for neovascular age-related macular degeneration.Current molecular medicine · 2013Trial
- Metabolic and Genetic Alterations in Early and Exudative Age-Related Macular Degeneration: Inosine, Amino Acids, andInternational journal of molecular sciences · 2026Article
- VEGF in Tears as a Biomarker for Exudative Age-Related Macular Degeneration: Molecular Dynamics in a Mouse Model and Human Samples.International journal of molecular sciences · 2025Article
91 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
45 authors at 16 institutions in 9 countries.
Funding
Abstract
Despite significant progress in the identification of genetic loci for age-related macular degeneration (AMD), not all of the heritability has been explained. To identify variants which contribute to the remaining genetic susceptibility, we performed the largest meta-analysis of genome-wide association studies to date for advanced AMD. We imputed 6 036 699 single-nucleotide polymorphisms with the 1000 Genomes Project reference genotypes on 2594 cases and 4134 controls with follow-up replication of top signals in 5640 cases and 52 174 controls. We identified two new common susceptibility alleles, rs1999930 on 6q21-q22.3 near FRK/COL10A1 [odds ratio (OR) 0.87; P = 1.1 × 10(-8)] and rs4711751 on 6p12 near VEGFA (OR 1.15; P = 8.7 × 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (rs10033900), LIPC (rs10468017), TIMP3 (rs9621532) and CETP (rs3764261) were confirmed with genome-wide significant signals in this large study. Loci in the recently reported genes ABCA1 and COL8A1 were also detected with suggestive evidence of association with advanced AMD. The novel variants identified in this study suggest that angiogenesis (VEGFA) and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced AMD.
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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.