ArticleHuman molecular genetics2013
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 86 citations in OpenAlex.
- The specific contributions of factor H and factor I in controlling fluid phase activation of the alternative complement pathway.Scientific reports · 2025Article
- Antioxidants in Age-Related Macular Degeneration: Lights and Shadows.Antioxidants (Basel, Switzerland) · 2025Review
- Differential modulation of SARS-CoV-2 infection by complement factor H and properdin.Frontiers in immunology · 2025Article
- Effective long-term treatment with moss-produced factor H by overcoming the antibody response in a mouse model of C3G.Frontiers in immunology · 2025Article
- Immunogenetic and Environmental Factors in Age-Related Macular Disease.International journal of molecular sciences · 2024Review
- CRISPR Manipulation of Age-Related Macular Degeneration Haplotypes in the Complement System: Potential Future Therapeutic Applications/Avenues.International journal of molecular sciences · 2024Review
- Heterozygous mutations in factor H aggravate pathological damage in a stable IgA deposition model induced byFrontiers in immunology · 2024Article
- Article
- Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.American journal of human genetics · 2022Article
- Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish.Investigative ophthalmology & visual science · 2022Article
- Age-Related Maculopathy Susceptibility 2 and Complement Factor H Polymorphism and Intraocular Complement Activation in Neovascular Age-Related Macular Degeneration.Ophthalmology science · 2022Article
- Complement Mediators in Development to Treat Age-Related Macular Degeneration.Drugs & aging · 2022Review
- Analysis of hemopexin plasma levels in patients with age-related macular degeneration.Molecular vision · 2022Article
- Protective chromosome 1q32 haplotypes mitigate risk for age-related macular degeneration associated with the CFH-CFHR5 and ARMS2/HTRA1 loci.Human genomics · 2021Article
- Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.American journal of human genetics · 2021Article
- Complement System and Potential Therapeutics in Age-Related Macular Degeneration.International journal of molecular sciences · 2021Review
- A Family Affair: Addressing the Challenges of Factor H and the Related Proteins.Frontiers in immunology · 2021Review
- The Role of Inflammation and Infection in Age-Related Neurodegenerative Diseases: Lessons From Bacterial Meningitis Applied to Alzheimer Disease and Age-Related Macular Degeneration.Frontiers in cellular neuroscience · 2021Article
- Evidence of complement dysregulation in outer retina of Stargardt disease donor eyes.Redox biology · 2020Article
- A genome-wide association study identifies key modulators of complement factor H binding to malondialdehyde-epitopes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
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Authors and funding
31 authors at 12 institutions in 4 countries.
Funding
Abstract
It is a longstanding puzzle why non-coding variants in the complement factor H (CFH) gene are more strongly associated with age-related macular degeneration (AMD) than functional coding variants that directly influence the alternative complement pathway. The situation is complicated by tight genetic associations across the region, including the adjacent CFH-related genes CFHR3 and CFHR1, which may themselves influence the alternative complement pathway and are contained within a common deletion (CNP147) which is associated with protection against AMD. It is unclear whether this association is mediated through a protective effect of low plasma CFHR1 concentrations, high plasma CFH or both. We examined the triangular relationships of CFH/CFHR3/CFHR1 genotype, plasma CFH or CFHR1 concentrations and AMD susceptibility in combined case-control (1256 cases, 1020 controls) and cross-sectional population (n = 1004) studies and carried out genome-wide association studies of plasma CFH and CFHR1 concentrations. A non-coding CFH SNP (rs6677604) and the CNP147 deletion were strongly correlated both with each other and with plasma CFH and CFHR1 concentrations. The plasma CFH-raising rs6677604 allele and raised plasma CFH concentration were each associated with AMD protection. In contrast, the protective association of the CNP147 deletion with AMD was not mediated by low plasma CFHR1, since AMD-free controls showed increased plasma CFHR1 compared with cases, but it may be mediated by the association of CNP147 with raised plasma CFH concentration. The results are most consistent with a regulatory locus within a 32 kb region of the CFH gene, with a major effect on plasma CFH concentration and AMD susceptibility.
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