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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]
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. 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.
blog post giving perspective on the significance of this SNP with respect to multiple sclerosis
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 10-6).[PMID 19116909]PMID 19265545] Contrasting genetic association of IL2RA with SLE and ANCA-associated vasculitis.
[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis
|Title||Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20|
|Odds Ratio||1.16 [NR]|
|Title||Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci|
|Odds Ratio||1.15 [1.04-1.27]|
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
[PMID 19956099] The type I diabetes association of the IL2RA locus
[PMID 21239413] Association of IL2RA polymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
[PMID 22117963] Interleukin 2 Receptor ? Gene Polymorphism and Risk of Multiple Sclerosis: a Meta-analysis
[PMID 22355377] Caucasian and asian specific rheumatoid arthritis risk Loci reveal limited replication and apparent allelic heterogeneity in north indians
[PMID 22012429] The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis
[PMID 18224336] Haplotypic analysis of Wellcome Trust Case Control Consortium data.
[PMID 18274536] Genome-wide association studies: progress and potential for drug discovery and development.
[PMID 18354419] IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations.
[PMID 18490360] The complex genetics of multiple sclerosis: pitfalls and prospects.
[PMID 18565446] Refining genetic associations in multiple sclerosis.
[PMID 18794857] Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19119414] IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.
[PMID 19125193] IL2RA/CD25 gene polymorphisms: uneven association with multiple sclerosis (MS) and type 1 diabetes (T1D).
[PMID 19155502] Soluble IL-2RA levels in multiple sclerosis subjects and the effect of soluble IL-2RA on immune responses.
[PMID 19375175] Fine mapping of multiple sclerosis susceptibility genes provides evidence of allelic heterogeneity at the IL2RA locus.
[PMID 19546505] IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).
[PMID 19701192] Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956106] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20017963] Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis.
[PMID 20179739] Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.
[PMID 20182566] The genetic aspects of multiple sclerosis.
[PMID 20368992] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
[PMID 20405052] The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
[PMID 20810507] Influence of IL2RA rs2104286 polymorphism in the risk of biopsy-proven giant cell arteritis.
[PMID 21815908] A variant of the Il2ra / Cd25 gene predisposing to graves' disease is associated with increased levels of soluble interleukin-2 receptor.
[PMID 21911588] IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways?
[PMID 22211793] Polymorphic variants of the IL2RA gene and susceptibility to type 1 diabetes in the Polish population.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 24332945] Interleukin 2 receptor α chain gene polymorphisms and risks of multiple sclerosis and neuromyelitis optica in southern Japanese
[PMID 22328738] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
[PMID 23529819] Association of variants in IL2RA with progression of joint destruction in rheumatoid arthritis.