Rs6897932

The (C) allele of rs6897932, located in the alternatively spliced exon 6 of IL7RA gene and encoding the amino acid threonine rather than isoleucine at amino acid position 244, is associated with a slight increase (18%) in risk of developing multiple sclerosis. [PMID 17660817; Nature Genetics 39, 1083 - 1091 (2007) SG Gregory et al.]

Note that the (C) allele is the most common at this position in all known populations and influences the ratios of the alternative isoforms (membrane bound and soluble) of the gene.

blog post giving perspective on the significance of this snp

[PMID 17660817] a significant risk factor for multiple sclerosis in four independent (overall P = 2.9 x 10(-7)) influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer.

nejm C allele increasing the risk of multiple sclerosis (odds ratio, approximately 1.2)

[PMID 18721276] A replication case-control study involving 599 Spanish patients with multiple sclerosis yielded a per allele odds ratio of 1.32 per rs6897932(C), (CI: 1.1-1.6, p = 0.0031), and odds per (C;C) genotype vs (T;T) and (C;T) genotypes of 1.5 (CI: 1.18-1.87, p = 0.0007).

GWAS
SNP	rs6897932
PubMedID	[PMID 17660530]
Condition	Multiple sclerosis
Gene	IL7RA
Risk Allele	C
pValue	3.00E-007
OR	1.18
95% CI	1.11-1.26

GWAS snp
PMID	[PMID 17554260]
Trait	Type 1 diabetes
Title	Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Risk Allele	G
P-val	0.0000079999999999999996
Odds Ratio	1.12 [1.06-1.19]

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	C
P-val	0.000002
Odds Ratio	1.12 [1.02-1.23]

[PMID 19626041] Variation in IL7R predisposes to sarcoid inflammation

[PMID 19744146] IL7RA polymorphisms and chronic inflammatory arthropathies

[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

[PMID 20112030] Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

[PMID 20952449] Evaluation of the established non-MHC multiple sclerosis loci in an Indian population

[PMID 21287555] The interleukin-7 receptor ? chain contributes to altered homeostasis of regulatory T cells in multiple sclerosis

[PMID 21543551] Relevance of IL7R genotype and mRNA expression in Dutch patients with multiple sclerosis

[PMID 22363405] Sample Reproducibility of Genetic Association Using Different Multimarker TDTs in Genome-Wide Association Studies: Characterization and a New Approach