ArticleMolecular vision2011
Copy number variation in the complement factor H-related genes and age-related macular degeneration.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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Who cites it
27 citing papers in PubMed, 33 citations in OpenAlex.
- Complement-Regulatory Proteins CFHR1 and CFHR3 and Patient Response to Anti-CD20 Monoclonal Antibody Therapy.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Trial
- Urinary CFHR2 as a Biomarker for Early Diagnosis and Disease Progression Prediction in Diabetic Kidney Disease.Current molecular medicine · 2026Article
- Levels of complement factor H-related 4 protein do not influence susceptibility to age-related macular degeneration or its course of progression.Nature communications · 2024Article
- Meningococcal factor H-binding protein: implications for disease susceptibility, virulence, and vaccines.Trends in microbiology · 2023Review
- Predicting late-stage age-related macular degeneration by integrating marginally weak SNPs in GWA studies.Frontiers in genetics · 2023Article
- Identification of CFHR4 associated with poor prognosis of hepatocellular carcinoma.Frontiers in oncology · 2022Article
- Screening for Copy Number Variations of the 15q13.3 Hotspot inCurrent issues in molecular biology · 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
- Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.American journal of human genetics · 2021Article
- Increased circulating levels of Factor H-Related Protein 4 are strongly associated with age-related macular degeneration.Nature communications · 2020Article
- Characterization of genetic predisposition and autoantibody profile in atypical haemolytic-uraemic syndrome.Immunology · 2018Article
- Deletion Variants ofJournal of the American Society of Nephrology : JASN · 2018Article
- Reference Intervals of Factor H and Factor H-Related Proteins in Healthy Children.Frontiers in immunology · 2018Article
- Self-Damage Caused by Dysregulation of the Complement Alternative Pathway: Relevance of the Factor H Protein Family.Frontiers in immunology · 2018Review
- Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects.The Kaohsiung journal of medical sciences · 2017Article
- Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma.Frontiers in immunology · 2017Article
- A novel PIK3CD C896T mutation detected in bilateral sudden sensorineural hearing loss using next generation sequencing: An indication of primary immunodeficiency.Journal of otology · 2016Article
- Article
- Current Understanding of the Role of Complement in IgA Nephropathy.Journal of the American Society of Nephrology : JASN · 2015Review
- Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.Progress in retinal and eye research · 2015Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
purposeTo determine the contribution of copy number variation (CNV) in the regulation of complement activation (RCA) locus to the development of age-related macular degeneration (AMD).
methodsA multiplex ligation-dependent probe amplification assay was developed to quantify the number of copies of CFH, CFHR3, CFHR1, CFHR4, CFHR2, and CFHR5 in humans. Subjects with (451) and without (362) AMD were genotyped using the assay, and the impact on AMD risk was evaluated.
resultsEight unique combinations of copy number variation were observed in the 813 subjects. Combined deletion of CFHR3 and CFHR1 was protective (OR=0.47, 95% confidence interval 0.36-0.62) against AMD and was observed in 88 (82 [18.6%] with one deletion, 6 [1.4%] with two deletions) subjects with AMD and 127 (108 [30.7%] with one deletion, 19 [5.4%] with two deletions) subjects without AMD. Other deletions were much less common: CFH intron 1 (n=2), CFH exon 18 (n=2), combined CFH exon 18 and CFHR3 (n=1), CFHR3 (n=2), CFHR1 (n=1), combined CFHR1 and CFHR4 (n=15), and CFHR2 deletion (n=7, 0.9%). The combined CFHR3 and CFHR1 deletion was observed on a common protective haplotype, while the others appeared to have arisen on multiple different haplotypes.
conclusionsWe found copy number variations of CFHR3, CFHR1, CFHR4, and CFHR2. Combined deletion of CFHR3 and CFHR1 was associated with a decreased risk of developing AMD. Other deletions were not sufficiently common to have a statistically detectable impact on the risk of AMD, and duplications were not observed.
Indexed as
Identifiers
21850184PMC3156785W1606380774What OpenQuestion holds
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.