ArticleHuman mutation2009
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locus.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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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
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples.Annals of the rheumatic diseases · 2010Pooled it
- Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data.Bioinformatics (Oxford, England) · 2026Article
- Pitfalls When Determining HNA-1 Genotypes and Finding Novel Alleles.International journal of molecular sciences · 2024Article
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- Impacts of FcγRIIB and FcγRIIIA gene polymorphisms on systemic lupus erythematous disease activity index.BMC research notes · 2021Article
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- Characterization of Endogenous Human FcγRIII by Mass Spectrometry Reveals Site, Allele and Sequence Specific Glycosylation.Molecular & cellular proteomics : MCP · 2019Article
- Low copy number of FCGR3B is associated with lupus nephritis in a Chinese population.Experimental and therapeutic medicine · 2017Article
- Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid Arthritis.Human mutation · 2017Article
- Population genetics of immune-related multilocus copy number variation in Native Americans.Journal of the Royal Society, Interface · 2017Article
- Association study of copy number variants in FCGR3A and FCGR3B gene with risk of ankylosing spondylitis in a Chinese population.Rheumatology international · 2016Article
- Association analysis of copy numbers of FC-gamma receptor genes for rheumatoid arthritis and other immune-mediated phenotypes.European journal of human genetics : EJHG · 2016Article
- Genotyping Single Nucleotide Polymorphisms and Copy Number Variability of the FCGRs Expressed on NK Cells.Methods in molecular biology (Clifton, N.J.) · 2016Article
- Comparison of Multiple Methods for Determination ofFrontiers in genetics · 2016Article
- Accurate interrogation of FCGR3A rs396991 in European and Asian populations using a widely available TaqMan genotyping method.Pharmacogenetics and genomics · 2015Article
- Article
- A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B.PloS one · 2015Article
- Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients.Arthritis & rheumatology (Hoboken, N.J.) · 2014Article
- Human gene copy number variation and infectious disease.Human genetics · 2014Review
- Single-nucleotide polymorphisms and copy number variations of theBiomedical reports · 2014Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Copy number variation (CNV) is an important source of genomic diversity in humans, and influences disease susceptibility. The immunoglobulin-receptor genes FCGR3A and FCGR3B on chromosome 1q23.3 show CNV, and CNV of the FCGR3B gene is associated with glomerulonephritis in systemic lupus erythematosus and organ-specific autoimmunity. Large-scale case-control association studies of CNV require technologies that are amenable to high-throughput analysis with low error rates. Here we propose an integrated suite of five assays, four of them duplexed to reduce DNA usage, that assays for CNV at FCGR3A and FCGR3B, and genotype the polymorphic neutrophil antigen HNA1. We show how a maximum-likelihood (ML) approach to combining the results from these five assays allows estimation of statistical confidence for each individual copy number, and therefore an appropriate significance threshold to be set, controlling the error rate. This approach results in a high-throughput copy number genotyping system, with demonstrable precision and accuracy, that can be applied to large case-control cohort studies. We demonstrate Mendelian inheritance of this CNV, variation in frequency between Europeans and East Asians, and a lack of strong association between the CNV and flanking SNP genotypes, with important consequences for genome-wide association studies.
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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.