ArticlePloS one2013
Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
65 citing papers in PubMed, 2 syntheses or guidelines pooled it, 122 citations in OpenAlex.
- Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.Pediatric nephrology (Berlin, Germany) · 2023Pooled it
- Association among Complement Factor H Autoantibodies, Deletions of CFHR, and the Risk of Atypical Hemolytic Uremic Syndrome.International journal of environmental research and public health · 2016Pooled it
- Advances in Complement Research: from Pathophysiology to Precision Medicine.Physiology (Bethesda, Md.) · 2026Review
- Extended haplotypes at the complement factor H gene locus are associated with liver transplant rejection.Hepatology communications · 2026Article
- Factor-H-related protein 1 (FHR1), a promotor of para-inflammation in age-related macular degeneration.Journal of neuroinflammation · 2025Article
- Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.American journal of human genetics · 2025Article
- Factor H-related 2 levels dictate FHR dimer composition.Scientific reports · 2025Article
- Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries.Nature genetics · 2024Article
- Successful Treatment of Posttransplant Monoclonal Gammopathy-associated C3 Glomerulopathy With Plasma Cell Clone-directed Therapy.Transplantation direct · 2024Article
- Factor H-related protein 1 in systemic lupus erythematosus.Frontiers in immunology · 2024Article
- Role of factor H-related protein 3 inFrontiers in immunology · 2024Article
- Comprehensive Analysis of Thrombotic Microangiopathy Following Renal Transplantation.International journal of nephrology · 2024Article
- C3 glomerulopathy: a kidney disease mediated by alternative pathway deregulation.Frontiers in nephrology · 2024Review
- The role of complement in kidney disease.Nature reviews. Nephrology · 2023Review
- Complement biomarkers in the antiphospholipid syndrome - Approaches to quantification and implications for clinical management.Clinical immunology (Orlando, Fla.) · 2023Review
- Targeting complement in IgA nephropathy.Clinical kidney journal · 2023Review
- Article
- Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Meningococcal factor H-binding protein: implications for disease susceptibility, virulence, and vaccines.Trends in microbiology · 2023Review
- Sickle cell disease is a risk factor for transplant-associated thrombotic microangiopathy in children.Blood advances · 2023Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
In this study we have used multiplex ligation-dependent probe amplification (MLPA) to measure the copy number of CFHR3 and CFHR1 in DNA samples from 238 individuals from the UK and 439 individuals from the HGDP-CEPH Human Genome Diversity Cell Line Panel. We have then calculated the allele frequency and frequency of homozygosity for the copy number polymorphism represented by the CFHR3/CFHR1 deletion. There was a highly significant difference between geographical locations in both the allele frequency (X(2) = 127.7, DF = 11, P-value = 4.97x10(-22)) and frequency of homozygosity (X(2) = 142.3, DF = 22, P-value = 1.33x10(-19)). The highest frequency for the deleted allele (54.7%) was seen in DNA samples from Nigeria and the lowest (0%) in samples from South America and Japan. The observed frequencies in conjunction with the known association of the deletion with AMD, SLE and IgA nephropathy is in keeping with differences in the prevalence of these diseases in African and European Americans. This emphasises the importance of identifying copy number polymorphism in disease.
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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.