Details

Home Details


Basic information of NR3C1 :

Official Symbol of Gene NR3C1
Species Homo sapiens
Entrez Gene ID 2908
Official Full Name nuclear receptor subfamily 3 group C member 1
Also known as GR; GCR; GRL; GCCR; GCRST
Gene Type protein coding
dbXrefs Ensembl:ENSG00000113580 MIM:138040; AllianceGenome:HGNC:7978
Map Location 5q31.3
Variation Type polymorphism
refSNP ID N363S, ER22/23EK, BclIG

Sample information of multiple sclerosis:

Detected Sample PBMC
Sample Detail N/A
Detected Method Allelic Discrimination Assays
Disease MS
Disease subtype RRMS, PPMS, SPMS
Population Dutch
Sample Size 103 MS patients / 33 healthy controls

Literature information of multiple sclerosis :

Pubmed ID 16083972
Year 2005
Title The impact of glucocorticoid receptor gene polymorphisms on glucocorticoid sensitivity is outweighted in patients with multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result For the ER22/23EK and the N363S variants no homozygous carriers were found.Genotype frequencies were not significantly different between HC and MS patients and the MS subgroups.The two other polymorphisms were not related to GC sensitivity.We defined 'real non-carriers' as having neither the N363S nor the BclIG allele.'Carriers' were cases carrying both the N363S and the BclIG allele.When only one of these polymorphisms was present, cases were defined as 'partly carriers'.In HC, 'real non-carriers' (carrying neither the N363S nor the BclIG allele) were significantly more sensitive to GC compared to 'partly carriers' .In MS patients there was no significant difference.
Mechanism/Pathway In several inflammatory or autoimmune diseases,evidence of decreased GC sensitivity of blood cells has been reported.Within the normal population, several polymorphisms have been described.At least three of these have been associated with altered GC sensitivity in vivo in healthy controls ,which is involved in the transactivation process.