Home Details
| 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 |
| 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 |
| Pubmed ID | 16083972 |
| Year | 2005 |
| Title | The impact of glucocorticoid receptor gene polymorphisms on glucocorticoid sensitivity is outweighted in patients with 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. |

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