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
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|Odds Ratio||1.16 [NR]|
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|Odds Ratio||1.15 [1.04-1.27]|
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[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.
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[PMID 20182566] The genetic aspects of multiple sclerosis.
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[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.
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[PMID 21911588] IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways?
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|qualified_impact||Insufficiently evaluated pathogenic|
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[PMID 23529819] Association of variants in IL2RA with progression of joint destruction in rheumatoid arthritis.
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|Odds Ratio||1.19 [1.11-1.28]|