rs2069778

This is a intron variant variant in the IL2 gene.

Research that mentions this SNP (1)

SNP/haplotype associations in cytokine and cytokine receptor genes and immunity to rubella vaccine
AssociationN=738Neelam Dhiman et al.(2010)· Immunogenetics

A candidate gene study of 738 healthy children examined associations between SNPs/haplotypes in cytokine and cytokine receptor genes and immune response to rubella vaccination. SNPs rs2844482 and rs2857708 in the TNFA promoter were associated with increased rubella-specific IgG antibodies (p=0.0002 and p=0.001, respectively). Multiple SNPs in TNFRSF1B and IL12B genes were associated with IL-6 secretion levels, and the TNFA haplotype AAACGGGGC was associated with higher rubella antibody response (t-statistic=3.32, p<0.001).

Traits studied:GM-CSF secretionIFN-gamma secretionIL-2 secretionIL-6 secretionRubella vaccination immune responseRubella-specific IgG antibody responseTNF-alpha secretion

About IL2

This gene is a member of the interleukin 2 (IL2) cytokine subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin, and thrombopoietin. The protein encoded by this gene is a secreted cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine (IL2R) is a heterotrimeric protein complex whose gamma chain is also shared by IL4 and IL7. The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Sep 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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