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Basic information of ESR1 :

Official Symbol of Gene ESR1
Species Homo sapiens
Entrez Gene ID 3467
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 Gene polymorphisms
refSNP ID XbaI

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population southern Italy population
Sample Size 132 MS cases and 129 controls

Literature information of multiple sclerosis :

Pubmed ID 12098649
Year 2002
Title Lack of association between estrogen receptor 1 gene polymorphisms and multiple sclerosis in southern Italy in humans

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Negative
Result Allelic and genotypic frequencies were not different between MS patients and population controls for either the PvuII or XbaI polymorphism
Mechanism/Pathway This result suggests that the association between a given disease and a genomic characterist