rs1050501
This is a variant in the FCGR2B gene that changes a isoleucine to an threonine.
▶ClinVar annotation
Malaria, resistance to; Systemic lupus erythematosus, susceptibility to
View on ClinVar →▶Research that mentions this SNP (2)
▶FcɛR1α gene polymorphism shows association with high IgE and anti‐FcɛR1α in Chronic Rhinosinusitis with Nasal PolyposisAssociationN=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).
▶RETRACTED ARTICLE: Gln50Ter Polymorphism of Fcγ receptor IIB gene associated with genetic susceptibility to human systemic lupus erythematosus in Chinese populationsAssociationN=435Faming Pan et al.(2007)· Archives of Dermatological Research
Family-based association study of 119 SLE patients and 316 family members from 95 Chinese nuclear families investigating the Fc gamma RIIB gene. The Gln50Ter polymorphism (rs10917661) was significantly associated with SLE susceptibility in additive (Z=3.444, P=0.00057), dominant (Z=2.619, P=0.0088), and recessive (Z=3.072, P=0.0021) genetic models. TDT/SDT analysis showed excess transmission of the 50Ter allele to affected offspring (chi-square=10.88, P=0.0013).
About FCGR2B
The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
View all FCGR2B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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