ArticleMolecular vision2012
Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- Trial
- Cuticular Drusen and the Risk of Progression to Late Age-Related Macular Degeneration: A MACUSTAR Study Report.Ophthalmology science · 2026Article
- Bidirectional Retro mode differential imaging improves drusen boundary depiction in early and intermediate AMD: a pilot study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Spatial distribution of cuticular drusen and its association with category-specific progression risk in intermediate AMD.Eye (London, England) · 2026Article
- Spatial Distribution of Cuticular Drusen and its Association with Category-Specific Progression Risk in Intermediate AMD.Research square · 2026Article
- Advanced age-related macular degeneration and risk factors in eyes with pachydrusen.Scientific reports · 2024Article
- Macular lesions associated with age-related macular degeneration in pachydrusen eyes.Eye (London, England) · 2024Article
- Age-related macular degeneration eyes presenting with cuticular drusen and reticular pseudodrusen.Scientific reports · 2022Article
- Clinical Manifestations of Cuticular Drusen: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2021Review
- Clinical manifestations of cuticular drusen in Korean patients.Scientific reports · 2020Article
- Clinical characteristics of cuticular drusen in the Japanese population.Japanese journal of ophthalmology · 2019Article
- The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.Journal of current ophthalmology · 2019Article
- Deep learning approach for the detection and quantification of intraretinal cystoid fluid in multivendor optical coherence tomography.Biomedical optics express · 2018Article
- Automatic detection of the foveal center in optical coherence tomography.Biomedical optics express · 2017Article
- Heritability of Choroidal Thickness in the Amish.Ophthalmology · 2016Article
- Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.PloS one · 2016Article
- Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration.PloS one · 2016Article
- Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.Molecular vision · 2015Article
- Highly penetrant alleles in age-related macular degeneration.Cold Spring Harbor perspectives in medicine · 2014Review
- The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2014Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the association of gender, cigarette smoking, body-mass index, and nine genetic risk variants with cuticular drusen (CD), a well recognized subtype of age-related macular degeneration (AMD).
methodsA total of 757 patients with AMD, including 217 patients with CD, and 553 control individuals were interviewed with a questionnaire and underwent an ophthalmic examination. Venous blood samples were obtained for genomic DNA extraction, and genotyping was performed of single nucleotide polymorphisms previously associated with AMD. Odds ratios were calculated for patients with CD, using unaffected control individuals as a reference. Furthermore, odds ratios in patients with CD were compared to those in patients with "non-CD" AMD.
resultsThe CD subtype of AMD was significantly associated with current smoking as well as variants in the complement factor H (CFH), age-related maculopathy susceptibility 2 (ARMS2), complement factor B/complement component 2 (CFB/C2), complement component 3 (C3), and apolipoprotein E (APOE) genes. In patients with CD, the association with the CFH Y402H risk allele was significantly higher (p=0.022), whereas the association with current smoking was significantly lower (p<0.001) than in the heterogeneous group of patients with "non-CD" AMD.
conclusionsThe AMD subtype of CD was associated with previously identified genetic AMD risk factors. However, the association with the CFH Y402H risk allele appeared to be stronger, whereas the association with smoking was less pronounced when compared to AMD as a whole. This study suggests a more important role for genetic factors than environmental factors in the development of this well defined subtype of AMD. These findings stress the importance of detailed phenotyping in AMD to identify homogeneous AMD subtypes, which may be associated with different risk factors and disease mechanisms. Such studies will improve the accuracy of predictive models and the effectiveness of preventive and therapeutic options in AMD.
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22933840PMC3429356W1892274864What OpenQuestion holds
Registered trials
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