Rs2104286

From SNPedia

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]

plos rs12722489 and rs2104286 influence multiple sclerosis and type-1 diabetes

[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

GWAS snp
PMID	[PMID 19525955]
Trait	Multiple sclerosis
Title	Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Risk Allele	G
P-val	0.000007
Odds Ratio	1.16 [NR]

GWAS snp
PMID	[PMID 19525953]
Trait	Multiple sclerosis
Title	Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
Risk Allele	T
P-val	9E-8
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