rs12722495
This is a regulatory region 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.
type 1 diabetes mellitus
▶Research that mentions this SNP (2)
▶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).
▶Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populationsReviewEiji Kawasaki et al.(2006)· American Journal of Medical Genetics Part A
This review examines slowly progressive type 1 diabetes mellitus (SPIDDM), also known as latent autoimmune diabetes in adults (LADA), discussing its pathogenesis, diagnostic markers, and genetic associations. Key findings include T-cell-mediated insulitis and pseudoatrophic islets characteristic of type 1 diabetes, absence of amyloid deposition seen in type 2 diabetes, and identification of multiple genetic susceptibility loci including HLA haplotypes, PTPN22 rs2476601, INS rs689, CTLA4, TCF7L2 rs7903146, ZMIZ1 rs12571751, SH2B3 rs7310615, and PFKFB3 rs1983890. GAD autoantibodies and HLA genotypes are important risk factors for beta-cell failure progression.
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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