rs10127939

This is a variant in the FCGR3A gene that changes a leucine to an histidine.

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ClinVar annotation

Uncertain Significance★☆☆☆
4 submitters6 publications

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; not specified

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Research that mentions this SNP (2)

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FcɛR1α gene polymorphism shows association with high IgE and anti‐FcɛR1α in Chronic Rhinosinusitis with Nasal Polyposis
AssociationN=282Sajad A. Dar et al.(2018)· Journal of Cellular Biochemistry

A retrospective cohort study of 282 patients with severe uncontrolled asthma treated with omalizumab, mepolizumab, or benralizumab for 12 months evaluated genetic variants in 11 genes (IL1RL1, IL5, GATA2, IKZF2, RAD50, C3, FCER1A, FCER1B, FCGR2A, FCGR2B, FCGR3A) as predictors of response. Key findings: FCGR2B rs3219018-C, GATA2 rs4857855-T, and FCGR2A rs1801274-AG associated with improved lung function in omalizumab (p=0.052, 0.052, 0.012); IL1RL1 rs17026974-AG/GG associated with reduced exacerbations in omalizumab (p=0.040, 0.041); FCER1B rs569108-AA and FCGR2A rs1801274-GG associated with corticosteroid reduction in benralizumab; FCER1A rs2427837-A associated with improved lung function in mepolizumab (p=0.023).

Traits studied:Exacerbation reductionLung function improvementOral corticosteroid reductionResponse to benralizumabResponse to mepolizumabResponse to omalizumabSevere uncontrolled asthma
PubMedDOIMetascience Observatory
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Fcγ Receptor IIIa Single‐Nucleotide Polymorphisms and Haplotypes Affect Human IgG Binding and Are Associated With Lupus Nephritis in African Americans
AssociationN=4,132Chaoling Dong et al.(2014)· Arthritis & Rheumatology

This study investigates FCGR3A variants (specifically positions 66 and 176) and their functional effects on human IgG binding in relation to systemic lupus erythematosus (SLE) and lupus nephritis. Using flow cytometry-based binding assays on transfected cells and genotyping of 1728 SLE patients and 2404 healthy controls, the authors found that the low binding haplotypes (66R/H/L and 176F combination) confer enhanced risk for lupus nephritis in African Americans (p=0.0609, OR=1.25, 95% CI 0.99-1.57), though FCGR3A copy number variations were not associated with SLE or nephritis.

Traits studied:Lupus nephritisSystemic lupus erythematosus (SLE)
PubMedDOIMetascience Observatory

About FCGR3A

This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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