rs11594656
This is a intergenic variant variant in the IL2RA gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
rheumatoid arthritis
▶ClinVar annotation
IL2RA-related disorder; Type 1 diabetes mellitus 10 (T1D10)
View on ClinVar →▶Research that mentions this SNP (4)
▶Predisposition to Behçet’s disease and VKH syndrome by genetic variants of miR-182AssociationN=3,520Hongsong Yu et al.(2014)· Journal of Molecular Medicine
A two-stage case-control study in a Chinese Han population examined 820 Behçet's disease (BD) and 900 VKH syndrome patients versus 1,800 controls. The miR-182/rs76481776 SNP showed significantly decreased CC genotype and C allele frequencies in BD (OR=0.55-0.58, P=3.36×10⁻⁴ to 3.25×10⁻⁷) and VKH patients (OR=0.53-0.57, P=1.11×10⁻⁴ to 7.89×10⁻⁸). Other SNPs in miR-27a, FoxO1, and IL2RA showed no significant associations. Functional analysis revealed increased miR-182 expression in TT/CT genotypes compared to CC in anti-CD3/CD28 antibody-stimulated CD4+ T cells (P=2.1×10⁻²).
▶Replication of association of the PTPRC gene with response to anti–tumor necrosis factor therapy in a large UK cohortAssociationN=1,115Darren Plant et al.(2012)· Arthritis & Rheumatism
A study of 1,115 UK rheumatoid arthritis patients receiving anti-TNF biologic therapy found that rs10919563 in the PTPRC gene was associated with improved treatment response (regression coefficient 0.19, 95% CI 0.09-0.37, P=0.04 for continuous DAS28 outcome; OR 0.62, 95% CI 0.40-0.95, P=0.03 for good EULAR response). Meta-analysis with a previous study strengthened evidence (P=5.13×10⁻⁵). Secondary analysis identified rs11594656 in IL2RA associated with good EULAR response (OR 1.47, P=0.02).
▶Single-nucleotide polymorphisms in the IL2RA gene are associated with age at diagnosis in late-onset Finnish type 1 diabetes subjectsAssociationN=2,129Matthew W. Klinker et al.(2010)· Immunogenetics
This case-control study of 591 late-onset Finnish type 1 diabetes patients (ages 15-40) and 1,538 controls identified SNPs at the INS (rs689, OR=0.57, p=2.77×10⁻⁹), PTPN22 (rs2476601, OR=1.50, p=3.98×10⁻⁶), and IFIH1 (rs1990760, OR=0.81, p=0.0028) loci significantly associated with disease. Notably, IL2RA SNPs (rs11594656 and rs41295061) showed no disease association but had independent effects on age at diagnosis (HR=0.83 and 0.74, p=0.015 and 0.006 respectively), making IL2RA a major determinant of disease onset timing.
▶Association of the IL2RA/CD25 gene with juvenile idiopathic arthritisAssociationN=7,260Anne Hinks et al.(2009)· Arthritis & Rheumatism
This association study identifies IL2RA/CD25 as a susceptibility locus for juvenile idiopathic arthritis (JIA). SNP rs2104286 showed significant association with JIA in UK cases (n=654, OR 0.76 [95% CI 0.66-0.88], P=0.0002), which was replicated in North American cases (n=747, OR 0.84 [95% CI 0.65-0.99], P=0.05). Meta-analysis confirmed highly significant association (OR 0.76 [95% CI 0.62-0.88], P=4.9×10⁻⁵). A second SNP (rs41295061) showed modest evidence for association. The gene encodes the IL-2 receptor α chain and plays a critical role in regulatory T cell development.
About IL2RA
The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
View all IL2RA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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