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

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