From SNPedia
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).
| ? | (C;C) (C;T) (T;T) |
|---|
 |
| 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]
|
Related to MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 3; MS3
according to
omim 612595. See
also
[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
| PharmGKB | PA161925604 |
| Name | IL7R: T244I |
| Annotation | This nonsynonymous coding SNP in exon 6 of IL7R showed highly significant evidence of association with multiple sclerosis. |
| Gene | IL7R |
| Featue | |
| Evidence | PubMed ID:17660530 |
| Drugs | |
| Diseases | Multiple Sclerosis |
| Curation Level | Curated |
[PMID 20112030] Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility
