ArticleGenes and immunity2015
Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression.
Article in Genes and immunity, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 32 citations in OpenAlex.
- FCGR Polymorphisms Influence Response to IL2 in Metastatic Renal Cell Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Trial
- Genetic variation of low-to-medium-affinity Fc-gamma receptors in Guillain-Barré syndrome.Journal of neurology · 2025Article
- Complete CD16A Deficiency and Defective NK Cell Function in a Man Living with HIV.Journal of clinical immunology · 2025Article
- Pitfalls When Determining HNA-1 Genotypes and Finding Novel Alleles.International journal of molecular sciences · 2024Article
- Fcγ receptors and immunomodulatory antibodies in cancer.Nature reviews. Cancer · 2024Review
- Systematic integration of machine learning algorithms to develop immune escape-related signatures to improve clinical outcomes in lung adenocarcinoma patients.Frontiers in immunology · 2023Article
- Systematic identification of genomic elements that regulate FCGR2A expression and harbor variants linked with autoimmune disease.Human molecular genetics · 2022Article
- FCGR3A gene duplication, FcγRIIb-232TT and FcγRIIIb-HNA1a associate with an increased risk of vertical acquisition of HIV-1.PloS one · 2022Article
- Article
- FcγR Genetic Variation and HIV-1 Vaccine Efficacy: Context And Considerations.Frontiers in immunology · 2021Article
- An HIV Vaccine Protective Allele inFrontiers in immunology · 2021Article
- Neonatal Immune Incompatibilities between Newborn and Mother.Journal of clinical medicine · 2020Review
- Transient and chronic childhood immune thrombocytopenia are distinctly affected by Fc-γ receptor polymorphisms.Blood advances · 2019Article
- Characterization of Endogenous Human FcγRIII by Mass Spectrometry Reveals Site, Allele and Sequence Specific Glycosylation.Molecular & cellular proteomics : MCP · 2019Article
- Genetic Variation in Low-To-Medium-Affinity Fcγ Receptors: Functional Consequences, Disease Associations, and Opportunities for Personalized Medicine.Frontiers in immunology · 2019Review
- Expression, Role, and Regulation of Neutrophil Fcγ Receptors.Frontiers in immunology · 2019Review
- Effect of Fc Receptor Genetic Diversity on HIV-1 Disease Pathogenesis.Frontiers in immunology · 2019Review
- Extensive Ethnic Variation and Linkage Disequilibrium at theFrontiers in immunology · 2019Article
- Impact of Human FcγR Gene Polymorphisms on IgG-Triggered Cytokine Release: Critical Importance of Cell Assay Format.Frontiers in immunology · 2019Article
- Neonatal Alloimmune Neutropenia.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2018Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human FCGR2/3 locus, containing five highly homologous genes encoding the major IgG receptors, shows extensive copy number variation (CNV) associated with susceptibility to autoimmune diseases. Having genotyped >4000 individuals, we show that all CNV at this locus can be explained by nonallelic homologous recombination (NAHR) of the two paralogous repeats that constitute the majority of the locus, and describe four distinct CNV regions (CNRs) with a highly variable prevalence in the population. Apart from CNV, NAHR events also created several hitherto unidentified chimeric FCGR2 genes. These include an FCGR2A/2C chimeric gene that causes a decreased expression of FcγRIIa on phagocytes, resulting in a decreased production of reactive oxygen species in response to immune complexes, compared with wild-type FCGR2A. Conversely, FCGR2C/2A chimeric genes were identified to lead to an increased expression of FCGR2C. Finally, a rare FCGR2B null-variant allele was found, in which a polymorphic stop codon of FCGR2C is introduced into one FCGR2B gene, resulting in a 50% reduction in protein expression. Our study on CNRs and the chimeric genes is essential for the correct interpretation of association studies on FCGR genes as a determinant for disease susceptibility, and may explain some as yet unidentified extreme phenotypes of immune-mediated disease.
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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.