IL2RA, interleukin 2 receptor subunit alpha, 3559

N. diseases: 540; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 GeneticVariation disease UNIPROT Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity. 23416241 2013
Interleukin 2 Receptor, Alpha, Deficiency of
0.710 GeneticVariation disease UNIPROT Follicular bronchiolitis as phenotype associated with CD25 deficiency. 24116927 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASDB Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE We observed an accumulation of rare nonsynonymous variants exclusive to RA cases in IL2RA and IL2RB (burden test: p = 0.007 and p = 0.018, respectively). 23261300 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE However, replicated associations of HLA-DRB1, PTPN22 (which confer ∼50% of the heritable risk to RA) and IL2RA suggest that cross-ethnicity fine mapping of such loci is apposite for identification of causal variants. 22355377 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE IL2RA/CD25, the gene for interleukin-2 receptor alpha, is emerging as a general susceptibility gene for autoimmune diseases because of its role in the development and function of regulatory T cells and the association of single-nucleotide polymorphisms (SNPs) within this gene with type 1 diabetes mellitus (DM), Graves' disease, rheumatoid arthritis (RA), and multiple sclerosis (MS). 19116909 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE The present genetic and serologic data suggest that inherited altered genetic constitution at the IL2RA locus may predispose to a less destructive course of RA. 23529819 2013
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE Targeted exon sequencing identified rare variants in IL2RA and IL2RB associated with rheumatoid arthritis. 27224741 2016
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Autoantibodies to insulin (IAA), GAD (GADA), insulinoma-associated antigen-2 (IA-2A) and zinc transporter 8 (ZnT8A) were measured in follow-up sera, and genotyping for type 1 diabetes susceptibility genes (HLA-DR/HLA-DQ, INS variable number of tandem repeats [VNTR] and single nucleotide polymorphisms at PTPN22, PTPN2, ERBB3, IL2, SH2B3, CTLA4, IFIH1, KIAA0350 [also known as CLEC16A], CD25, IL18RAP, IL10, COBL) was performed on the DNA samples of children born to a parent with type 1 diabetes and prospectively followed from birth for up to 22 years. 23539116 2013
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE The CTLA4 and IL2RA loci were more strongly associated with double autoimmunity than with either T1D or CeD alone. 26405070 2015
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Three variants were found to be significantly associated with type 1 diabetes (T1D): NLRP1 rs12150220 (OR = 0.71, 95% CI = 0.55-0.92, P = 0.01), IL2RA rs11594656 (OR = 0.86, 95% CI = 0.82-0.91, P<0.00001), and CLEC16A rs725613 (OR = 0.71, 95% CI = 0.55-0.92, P = 0.01). 23922971 2013
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease GWASCAT 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. 22293688 2012
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE In addition, IL2RA genetic variants correlate with the levels of a soluble form of the IL-2 receptor in subjects with type 1 diabetes and multiple sclerosis. 19155502 2009
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE We addressed this by examining the impact of an IL2RA haplotype associated with type 1 diabetes on Treg fitness and suppressive function. 22461703 2012
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease GWASDB 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. 22293688 2012
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Our findings suggest that the effect of IL2RA risk alleles on T1D may be partially mediated through epigenetic changes. 23874506 2013
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE The established T1D SNPs rs1159465 (near IL2RA) and rs75352297 (near CCR2 and CCR3) were positively associated with IL-2Rα and CCL4, respectively (P < .01). 29266506 2018
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Variants within the IL-2 (interleukin 2) and CD25 genes are associated with T1DM (Type 1 diabetes mellitus) in mice and humans respectively. 18481948 2008