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Basic information of IL7R :

Official Symbol of Gene IL7R
Species Homo sapiens
Entrez Gene ID 3575
Official Full Name interleukin 7 receptor
Also known as ILRA; CD127; IL7RA; CDW127; IMD104; sIL-7R; lnc-IL7R; IL7Ralpha; IL-7Ralpha; IL-7R-alpha
Gene Type protein coding
dbXrefs Ensembl:ENSG00000168685 MIM:146661; AllianceGenome:HGNC:6024
Map Location 5p13.2
Variation Type SNP
refSNP ID rs6897932

Sample information of multiple sclerosis:

Detected Sample N/A
Sample Detail N/A
Detected Method real-time PCR
Disease MS
Disease subtype PPMS,conventional MS (CMS),opticospinal MS (OSMS)
Population Asian
Sample Size 265 patients / 158 unrelated healthy controls

Literature information of multiple sclerosis :

Pubmed ID 21670443
Year 2011
Title Interleukin-7 receptor alpha gene polymorphism influences multiple sclerosis risk in Asians

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The frequencies of both the C allele and the CC genotype of SNP rs6897932 in the IL-7RA gene in patients with non-NMO MS were significantly higher than those of HCs.However, there was no significant difference in the frequency of either the C allele or the CC genotype between HCs and patients with NMO. The frequencies of both the C allele and the CC genotype were significantly higher in patients with CMS than in HCs, but not in patients with OSMS. This study revealed a significant association of the SNP rs6897932 of IL-7RA gene with non-NMO MS in Japanese populations.
Mechanism/Pathway The SNP located in the transmembrane domain of IL-7Rα is nonsynonymous and functional: the MS-susceptible CC allele increases levels of the soluble form of IL-7Rα via exon skipping, and decreases the expression of membranebound IL-7Rα, thereby causing decreased IL-7/ IL-7R signaling.IL-7/IL-7R signaling induces thymic production of FOXP3 regulatory T cells, which efficiently ameliorate experimental autoimmune encephalomyelitis,an animal model of MS.