rs2069779
This is a intron variant variant in the IL2 gene.
▶Research that mentions this SNP (1)
▶Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21AssociationN=15,529Travis Hughes et al.(2011)· Arthritis & Rheumatism
This study fine-maps the IL2/IL21 genetic association with systemic lupus erythematosus (SLE) in two large independent sample sets: European-derived (4,248 lupus patients, 3,818 controls) and African-American (1,569 patients, 1,893 controls). Using conditional analysis and trans-ethnic mapping, the researchers localized the primary genetic effect to two SNPs in high linkage disequilibrium: rs907715 within IL21 (OR=1.16, 95% CI 1.10-1.22, P=2.17×10⁻⁸) and rs6835457 in the 3'-UTR flanking region of IL21 (OR=1.11, 95% CI 1.05-1.17, P=9.35×10⁻⁵). The findings establish genome-wide significance for the IL2/IL21 locus in lupus genetic susceptibility.
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]
View all IL2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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