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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 Blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS
Population N/A
Sample Size A total of 150 subjects consist of 75 MS patients, 60 and 75 healthy individuals

Literature information of multiple sclerosis :

Pubmed ID 28582853
Year 2018
Title Investigating the exon 6 sequence changes of interleukin 7 receptor A (IL7RA) gene in patients with relapsing-remitting multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result positive
Result The allelic and genotypic estimated frequencies of a reported risk variant rs6897932 in patients and controls in our population confirmed its association with the disease (P= 0.009, OR = 6.273, for TT genotype). Also, we report a possible hazardous cutoff for changes in a potential exon splicing silencer element (ESS (nt. 20-24)) and its correlation with rs6897932 to confer the risk of developing MS.
Mechanism/Pathway Notably, it is important that other aspects of the exon splicing of the IL7RA gene be taken into consideration to understand the underling mechanism of the correlation between this changes and MS disease.