{{Rsnum
|rsid=2104286
|Gene=IL2RA
|Chromosome=10
|position=6099045
|Orientation=minus
|GMAF=0.1377
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 58.4 | 32.7 | 8.8
| HCB | 76.6 | 21.2 | 2.2
| JPT | 76.1 | 22.1 | 1.8
| YRI | 97.3 | 2.7 | 0.0
| ASW | 86.0 | 12.3 | 1.8
| CHB | 76.6 | 21.2 | 2.2
| CHD | 75.2 | 22.9 | 1.8
| GIH | 66.3 | 31.7 | 2.0
| LWK | 91.7 | 8.3 | 0.0
| MEX | 81.0 | 19.0 | 0.0
| MKK | 87.2 | 12.8 | 0.0
| TSI | 59.8 | 32.4 | 7.8
| HapMapRevision=28
}}[[rs2104286]] has also been reported in a large study to be associated with [[type-1 diabetes]].

The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.30 (CI 1.02-1.65), and for homozygotes, 1.57 (CI 1.25-1.99). {{PMID|17554300|OA=1
}}

The same (A) allele of [[rs2104286]], which is located in the first intron of the [[IL2RA]] gene, was calculated to confer a slight increase (19%) in the risk of developing [[multiple sclerosis]]. {{doi|10.1056/NEJMoa073493}}[PMID tbd;  NEJM 357, 29 July 2007, DA Hafler et al.]

Note that the (A) allele is the most common at this position in all known populations.

[http://thegenesherpa.blogspot.com/2007/07/ms-genes-and-gwas.html blog post] giving perspective on the significance of this SNP with respect to multiple sclerosis

[http://www.medicalnewstoday.com/articles/111366.php news announcement] [[rs2104286]] was significantly associated with UK cases of juvenile idiopathic [[arthritis]] (JIA)(allelic odds ratio = 0.76, CI: 0.66-0.88, trend p=0.0002), and the association was strongest in a cohort of patients with oligoarthritis, the most common subtype of JIA. This SNP was most strongly associated with female patients and those positive for antinuclear antibodies. Genotype data for SNP rs2104286 for controls was combined with the data for that SNP obtained from a genome-wide association study (WTCCC GWA), giving a total control sample size of 6787. This association with rs2104286 was replicated in a second study cohort of JIA cases from the USA (odds ratio 0.84, CI: 0.65-1.0, trend p=0.05). Meta-analysis of the two cohorts yielded highly significant evidence for association (odds ratio 0.76, CI: 0.62-0.88, p-value 4.9 x 10<sup>-6</sup>).{{PMID|19116909|OA=1
}}

[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000322 plos] [[rs12722489]] and [[rs2104286]] influence [[multiple sclerosis]] and [[type-1 diabetes]] 

{{ neighbor
| rsid = 706778
| distance = 96
}}

{{PMID Auto
|PMID=19265545
|Title=Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis.
|OA=1
}}

{{PMID Auto
|PMID=19565500
|Title=Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
|OA=1
}}
{{PMID Auto GWAS
|PMID=19525955
|Trait=Multiple sclerosis
|Title=Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
|RiskAllele=G
|Pval=0.000007
|OR=1.16
|ORtxt=[NR]
}}
{{PMID Auto GWAS
|PMID=19525953
|Trait=Multiple sclerosis
|Title=Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
|RiskAllele=T
|Pval=9E-8
|OR=1.15
|ORtxt=[1.04-1.27]
|OA=1
}}

{{omim
|desc=MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 2; MS2
|id=612594
|rsnum=2104286
}}
{{PMID Auto
|PMID=18650830
|Title=Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
}}

{{PharmGKB
|RSID=rs2104286
|Name_s=
|Gene_s=IL2RA
|Feature=
|Evidence=PubMed ID:17554300
|Annotation=This variant in the IL2RA gene is associated with rheumatoid arthritis and type I diabetes mellitus in GWAS.
|Drugs=
|Drug Classes=
|Diseases=Arthritis, Rheumatoid
|Curation Level=Curated
|PharmGKB Accession ID=PA161748424
}}

{{PMID Auto
|PMID=19956099
|Title=The type I diabetes association of the IL2RA locus
|OA=1
}}

{{PMID Auto
|PMID=21239413
|Title=Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
}}

{{PMID Auto
|PMID=22117963
|Title=Interleukin 2 Receptor ? Gene Polymorphism and Risk of Multiple Sclerosis: a Meta-analysis
}}

{{PMID Auto
|PMID=22355377
|Title=Caucasian and asian specific rheumatoid arthritis risk Loci reveal limited replication and apparent allelic heterogeneity in north indians
|OA=1
}}

{{PMID Auto
|PMID=22012429
|Title=The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis
}}

{{PMID Auto
|PMID=18224336
|Title=Haplotypic analysis of Wellcome Trust Case Control Consortium data.
|OA=1
}}

{{PMID Auto
|PMID=18274536
|Title=Genome-wide association studies: progress and potential for drug discovery and development.
|OA=1
}}

{{PMID Auto
|PMID=18354419
|Title=IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations.
}}

{{PMID Auto
|PMID=18490360
|Title=The complex genetics of multiple sclerosis: pitfalls and prospects.
|OA=1
}}

{{PMID Auto
|PMID=18565446
|Title=Refining genetic associations in multiple sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=18794857
|Title=Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19119414
|Title=IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.
|OA=1
}}

{{PMID Auto
|PMID=19125193
|Title=IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).
|OA=1
}}

{{PMID Auto
|PMID=19155502
|Title=Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses.
|OA=1
}}

{{PMID Auto
|PMID=19375175
|Title=Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.
}}

{{PMID Auto
|PMID=19546505
|Title=IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).
|OA=1
}}

{{PMID Auto
|PMID=19701192
|Title=Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.
|OA=1
}}

{{PMID Auto
|PMID=19956101
|Title=Overview of the Rapid Response data.
|OA=1
}}

{{PMID Auto
|PMID=19956106
|Title=Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
|OA=1
}}

{{PMID Auto
|PMID=20007504
|Title=Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
|OA=1
}}

{{PMID Auto
|PMID=20017963
|Title=Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=20179739
|Title=Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.
|OA=1
}}

{{PMID Auto
|PMID=20182566
|Title=The genetic aspects of multiple sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=20368992
|Title=Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
|OA=1
}}

{{PMID Auto
|PMID=20405052
|Title=The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
|OA=1
}}

{{PMID Auto
|PMID=20810507
|Title=Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.
}}

{{PMID Auto
|PMID=21815908
|Title=A variant of the Il2ra / Cd25 gene predisposing to graves' disease is associated with increased levels of soluble interleukin-2 receptor.
}}

{{PMID Auto
|PMID=21911588
|Title=IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways?
}}

{{PMID Auto
|PMID=22211793
|Title=Polymorphic variants of the IL2RA gene and susceptibility to type 1 diabetes in the Polish population.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2104286
|overall_frequency_n=21
|overall_frequency_d=128
|overall_frequency=0.164062
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=18
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24332945
|Title=Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese
}}

{{PMID Auto
|PMID=22328738
|Title=Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
|OA=1
}}

{{PMID Auto
|PMID=23529819
|Title=Association of variants in IL2RA with progression of joint destruction in rheumatoid arthritis.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}