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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 504 C (GCA haplotype)

Sample information of multiple sclerosis:

Detected Sample whole blood
Sample Detail N/A
Detected Method Real Time PCR
Disease MS
Disease subtype SPMS, PPMS
Population northern European origin
Sample Size 12 patients with chronic progressive disease / 20 female healthy controls and 5 male healthy controls

Literature information of multiple sclerosis :

Pubmed ID 16075257
Year 2005
Title Gene expression and genotyping studies implicate the interleukin 7 receptor in the pathogenesis of primary progressive multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result In the case control study, there was over-representation of the 504 T allele in PPMS and a non-significant trend towards over-representation of the C allele in SPMS.In healthy controls, no difference in promoter haplotype expression was detected, but in CPMS patients, a small but significant difference was detected in haplotype expression, with promoter haplotype GCA being the high expressor.
Mechanism/Pathway N/A