rs2069772

This is a intron variant variant in the IL2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

eosinophil count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 1.0e-40
N 408,112
Large GWAS
European

asthma

Jia G et al. “Discerning asthma endotypes through comorbidity mapping.” Nature Communications 13(1):6712 (2022)
Allele C
OR 1.05
p 4.0e-9
N 305,098
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Haplotype-based analysis of ulcerative colitis risk loci identifies both IL2 and IL21 as susceptibility genes in Han Chinese
AssociationN=545Jihua Shi et al.(2011)· Inflammatory Bowel Diseases

This haplotype-based case-control study in 245 Han Chinese ulcerative colitis (UC) patients and 300 controls examined six known UC susceptibility loci. The authors identified IL2 SNP rs2069762 (P=7.0×10⁻⁴, OR=1.54, 95% CI 1.20-1.99) and IL21 SNP rs2055979 (P=1.2×10⁻⁴, OR=1.50, 95% CI 1.17-1.92) as independently associated with UC, demonstrating that unlike in Caucasians, IL2 and IL21 occupy separate linkage disequilibrium blocks in Han Chinese populations. They also identified rs17375018 in IL23R associated with disease extent (pancolitis; P=0.002, OR=2.38, 95% CI 1.41-4.02).

Traits studied:Inflammatory bowel diseaseUlcerative colitisUlcerative colitis with pancolitis
PubMedDOIMetascience Observatory

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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