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
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed. 25980680 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Both signals in the two variant model for MS affect CD25 expression on distinct subpopulations of CD4+ T cells, which are key cells in the autoimmune process. 26106896 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Associations of CLEC16A and IL2RA with MS were validated. 25903733 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE IL2RA variants are known to protect against multiple sclerosis, diabetes mellitus and RA. 26350950 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE The proposed procedure is illustrated on a multiple sclerosis (MS) family data set including genotypes of SNPs in IL2RA, confirming the advantage of using a family design to identify causal variants. 25585700 2015
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 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 Biomarker disease BEFREE In this study, we demonstrated that the frequencies of CD3(+) CD4(+) IL-17(+) Th17 cells were significantly higher, and CD4(+) CD25(+) FOXP3(+) Treg cells significantly lower in peripheral blood mononuclear cells from RA patients. 25164131 2014
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 Biomarker disease BEFREE In this study, we have used a microarray approach to comprehensively analyze miRNA expression signatures of both naive Tregs (CD4+CD45RO-CD25++) and memory Tregs (CD4+CD45RO+CD25+++), as well as conventional naive (CD4+CD45RO-CD25-) and memory (CD4+CD45RO+CD25-) T cells (Tconvs) derived from peripheral blood of RA patients and matched healthy controls. 24401767 2014
Diabetes Mellitus, Insulin-Dependent
0.500 GeneticVariation disease BEFREE The IL2RA and IL7RA variants had univariate association in MS and T1D, whereas the MGAT1 and CTLA-4 variants associated with only MS or T1D, respectively. 24572742 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Although the possibility that IL2RA is a risk factor for MS development was not confirmed in this Japanese population, IL2RA gene polymorphisms were able to modify the disease activity in female MS patients, but had no influence on either susceptibility or disease phenotype in NMO/NMOSD patients. 24332945 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE However, similar to MS, the MGAT1 variant haplotype interacted with CTLA4 (P=0.03), and a combination of IL2RA and IL7RA (P=0.01). 24572742 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE We show that an MS-associated polymorphism in the IL-2 receptor alpha (IL2RA) gene specifically increases the frequency of GM-CSF-producing TH cells. 25278028 2014
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Further characterization of the effect of IL2RA and IL7R genetic variants in defined MS subtypes is warranted to evaluate the effect of these genes on specific clinical outcomes and to further elucidate the mechanisms of disease onset and progression. 24770783 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 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
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 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 BEFREE Our findings suggest that the effect of IL2RA risk alleles on T1D may be partially mediated through epigenetic changes. 23874506 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Flow cytometry was used to study the activation of CD4+ T cells and T cell subsets (CD25(high) and CD26(high) cells), monocytes and DCs in a cross-sectional study of 39 untreated and 29 GA-treated MS patients, the latter followed prospectively for one year. 22653658 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease CTD_human Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 AlteredExpression disease BEFREE Here we describe linked intronic variants of MGAT5 that are associated with reduced N-glycan branching, CTLA-4 surface expression and MS (p=5.79×10(-9), n=7,741), the latter additive with the MGAT1, IL2RA and IL7RA MS risk variants (p=1.76×10(-9), OR=0.67-1.83, n=3,518). 23351704 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013