Basic information of ESR1 :
| Official Symbol of Gene | ESR1 |
| Species | Homo sapiens |
| Entrez Gene ID | 397435 |
| Official Full Name | estrogen receptor 1 |
| Also known as | ER-alpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSSSCG00000025777 |
| Map Location | 6q25.1-q25.2 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | 15MS/58Health |
Literature information of multiple sclerosis :
| Pubmed ID | 36254093 |
| Year | 2022 |
| Title | Correlation between ERα gene polymorphism and multiple sclerosis and neuromyelitis optica |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Xba I gene polymorphisms in the ER α gene have correlation with MS and NMO. Xba I gene could be a risk factor of MS and NMO pathogenesis, especially the women with Xx genotype are more vulnerable. |
| Mechanism/Pathway | T o study the polymorphism distribution of estrogen receptor (ER) α gene and the correlation between different types of polymorphism in multiple sclerosis (MS) and neuromyelitis optica (NMO) patients. |
