ArticleMolecular vision2009
Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Identification of novel blood-borne soluble binding partners of factor H-related proteins.Scientific reports · 2026Article
- Article
- Productive infection of the retinal pigment epithelium by SARS-CoV-2: Initial effects and consideration of long-term consequences.PNAS nexus · 2024Article
- Integrating external controls in case-control studies improves power for rare-variant tests.Genetic epidemiology · 2022Article
- Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation.Frontiers in immunology · 2022Article
- FHR-5 Serum Levels andFrontiers in immunology · 2021Article
- Review
- Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects.The Kaohsiung journal of medical sciences · 2017Article
- Article
- Rare Variants in the Complement Factor H-Related Protein 5 Gene Contribute to Genetic Susceptibility to IgA Nephropathy.Journal of the American Society of Nephrology : JASN · 2016Article
- Complement system in pathogenesis of AMD: dual player in degeneration and protection of retinal tissue.Journal of immunology research · 2014Review
- Genetic insights into age-related macular degeneration: controversies addressing risk, causality, and therapeutics.Molecular aspects of medicine · 2012Review
- Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene.Journal of human genetics · 2012Article
- Copy number variation in the complement factor H-related genes and age-related macular degeneration.Molecular vision · 2011Article
- Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.Lancet (London, England) · 2010Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
purposeTo investigate the complement factor H related 5 (CFHR5) gene, encoding a member of the complement factor H family, for the presence of genetic polymorphisms or mutations associated with age-related macular degeneration (AMD).
methodsWe screened 639 unrelated patients with AMD and 663 age-matched normal controls using direct genomic sequencing of the ten coding exons, along with the immediately flanking intronic DNA. The pathologic impact of the identified sequence variants were analyzed by computational methods using PolyPhen and PMut algorithms.
resultsWe identified five heterozygous sequence changes in CFHR5. Asp169Asp had a minor allele frequency of 0.001% in patients and 0.014% in controls (p<0.0001), while Arg356His had a minor allele frequency of 0.016% in patients and 0.007% in controls. Val379Leu, Met514Arg, and Cys568Ter were found only in normal controls. In silico analysis predicted Arg356His and Val379Leu to be neutral and benign. Met514Arg was predicted to be pathological and damaging to the function of the CFHR5 protein.
conclusionsNo definitive pathogenic CFHR5 mutations have been found in any of 639 unrelated patients with AMD, indicating that sequence variations in CFHR5 do not play a major role in determining AMD susceptibility. However, our findings suggest a possible protective role for Asp169Asp. Further studies of different and larger populations of patient and control samples will be required to address this observation.
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Registered trials
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