Basic information of ESR1 :
| Official Symbol of Gene | ESR1 |
| Species | Homo sapiens |
| Entrez Gene ID | 2099 |
| Official Full Name | estrogen receptor 1 |
| Also known as | ER; ESR; Era; ESRA; ESTRR; NR3A1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000091831 MIM:133430; AllianceGenome:HGNC:3467 |
| Map Location | 6q25.1-q25.2 |
| Variation Type | Alleles |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS/SPMS/PPMS |
| Population | Australian MS patients |
| Sample Size | 110 patients/110controls |
Literature information of multiple sclerosis :
| Pubmed ID | 17109894 |
| Year | 2007 |
| Title | Allelic variation investigation of the estrogen receptor within an Australian multiple sclerosis population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Our results do not support a role for these two ESR1 markers in multiple sclerosis susceptibility, however other markers within ESR1 should not be excluded for potential involvement in the disorder. |
| Mechanism/Pathway | Negative |
