ArticleMolecular vision2015
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.
Article in Molecular vision, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.Investigative ophthalmology & visual science · 2025Article
- Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential.International journal of molecular sciences · 2022Review
- Review
- Genetic Risk in Families with Age-Related Macular Degeneration.Ophthalmology science · 2021Article
- Clinical Manifestations of Cuticular Drusen: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2021Review
- Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD.Frontiers in immunology · 2020Article
- Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.Ophthalmology · 2019Article
- Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Geographic distribution of rare variants associated with age-related macular degeneration.Molecular vision · 2018Article
- Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.JAMA ophthalmology · 2017Article
- From compliment to insult: genetics of the complement system in physiology and disease in the human retina.Human molecular genetics · 2017Review
- Article
- The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.Molecular immunology · 2017Review
- Anti-complement-factor H-associated glomerulopathies.Nature reviews. Nephrology · 2016Review
- Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.PloS one · 2016Article
- Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration.Investigative ophthalmology & visual science · 2015Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAge-related macular degeneration (AMD) and cuticular drusen (CD), a clinical subtype of AMD, have been linked to genetic variants in the complement factor H (CFH) gene. In this study, we aimed to investigate the frequency of rare variants in the CFH gene in 180 cases with CD. In addition, we aimed to determine the frequency of a previously reported rare, highly penetrant CFH variant (p.Arg1210Cys) in a Dutch-German non-CD-type AMD case-control cohort, and to describe the phenotype of patients carrying the p.Arg1210Cys variant.
methodsStudy subjects were selected from the European Genetic Database (EUGENDA), a joint AMD database of the Radboud University Medical Centre and the University Hospital of Cologne, and graded at the Cologne Image Reading Centre and Laboratory (CIRCL). Additionally, two CD cases were recruited from the VU Medical Centre in Amsterdam. The CFH gene was analyzed in 180 CD cases with Sanger sequencing. All identified variants were analyzed for potential damaging effects with prediction software tools Sorting Intolerant from Tolerant (SIFT) and Polymorphism Phenotyping (PolyPhen). In addition, we genotyped the p.Arg1210Cys variant in 813 non-CD type AMD cases and 1175 controls.
resultsSequencing identified 11 rare, heterozygous missense variants, one frameshift variant, and one splice acceptor site variant in 16 CD cases. The p.Arg1210Cys variant was identified in two CD cases but was not identified in our Dutch-German non-CD-type AMD case-control cohort.
conclusionsThe present study identified the presence of rare variants in the CFH gene in 16 (8.8%) of 180 patients with the CD subtype of AMD. The carriers of rare CFH variants displayed a significantly earlier age at onset than non-carriers (p=0.016). The rare missense variant p.Arg1210Cys was identified in two CD cases, but was not detected in 813 non-CD type AMD cases or in the 1,175 controls of our Dutch-German cohort. The current study suggests that the p.Arg1210Cys variant may be restricted to a subset of patients with the CD subtype of AMD. Detailed clinical phenotyping, including fluorescein angiography, of patients with AMD carrying the p.Arg1210Cys variant in other cohorts is required to confirm this finding.
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