ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 PosttranslationalModification disease BEFREE The ERα promoter methylation is related to impaired cognitive function and QOL of patients with AD by inhibiting ERα mRNA expression and transcription. 30947592 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Increased Neuronal Nuclear and Perikaryal Size in the Medial Mamillary Nucleus of Vascular Dementia and Alzheimer's Disease Patients: Relation to Nuclear Estrogen Receptor α. 31319413 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Raloxifene, a selective estrogen receptor modulator, displays benefits for Alzheimer's disease (AD) prevention in postmenopausal women as hormonal changes during menopause have the potential to influence AD pathogenesis, but the underlying mechanism of its neuroprotection is not entirely clear. 31583774 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE In multivariable regression analysis, CERAD-K total score showed a significant negative correlation with age (β=-0.415, p<0.001) or DAS28-ESR (β=-4.685, p<0.001), but no correlation was found between CERAD-K total score and presence of plaque or cIMT. 29652660 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE These features of non-feminizing estrogens make them attractive compounds for assessment of efficacy in AD and stroke, as they are not expected to show the side effects of chronic estrogen therapy that are mediated by ER actions in the liver, uterus and breast. 27818250 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE In addition, we have provided a feasible new mechanism to explain the abnormal function of mossy fibers and cerebellar granule cells related to memory and cognitive decline in AD apart from the Tau and amyloid pathogenesis through our BARHL1-ESR1 axis. 28956815 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Together, the data show that AD and menopause lead to disruption in the lipid raft structure, and disfunctioning of ER alpha and other neuroprotectors integrated into these signalosomes. 27814578 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE These include estrogen receptor agonists (pelargonidin), Bambusae concretio Salicea, Monascin, and various antioxidatives such as resveratrol, tocotrienol, anthocyanins, and epicatechin, showing beneficial effects in AD models. 29311817 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE This meta-analysis showed associations between the ESR1 PvuII polymorphism and AD susceptibility in males, between AD risk and the ESR1 XbaI polymorphism in the Japanese population, and between the PP/XX haplotype and AD susceptibility in the Chinese population. 26345870 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE These data reveal for the first time opposing roles for ERα and ERβ in AD pathogenesis and suggest potential therapeutic targets for AD. 26111662 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The ERα-mediated inhibition of Death domain-associated protein (Daxx) translocation and the combination of membrane ERα and caveolin in caveolae may protect against AD. 25159676 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Herein, we conducted a meta-analysis to clarify the association between ESR1 polymorphisms and the occurrence of AD. 24857745 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Meta-analysis of the association between polymorphisms of estrogen receptor α genes rs9340799 and rs2234693 and Alzheimer's disease: evidence from 23 articles. 24829062 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Based on this meta-analysis, we conclude that the ESR1 PvuII polymorphism might be a risk factor in AD development in Caucasian populations, not in Asian populations. 25061285 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Several ESR1 polymorphisms were associated with cognitive decline as assessed by Chinese versions of Mini-Mental State Examination and Alzheimer Disease Association Scales-Cognitive Subscale. 23567436 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE ESR1 polymorphisms affect age of onset of AD in women, and risk alleles vary by ethnicity. 24732579 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Genetic variation in the estrogen receptor (ESR) may be associated with the incidence of Alzheimer's disease (AD), but this association could be modified by genetic and environmental factors. 23491264 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Two ESR1 intronic polymorphisms (PvuII, rs2234693; XbaI, rs9340799) were examined in 184 AD patients: 157 were receiving treatment with donepezil or rivastigmine and 27 were receiving no treatment. 24150894 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In addition to the genes associated with estrogen biosynthesis and metabolism and the genes encoding estrogen receptor proteins, some other genes also modulate the effects of estrogen on AD, or interact with other estrogen-associated genes on the progress of AD. 24096044 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE The present study evaluated age-related changes in testosterone and E(2) concentrations, as well as androgen receptor (AR) and oestrogen receptor (ER) α and β expression, in brain regions displaying AD pathology in intact male and female 3xTgAD and nontransgenic (ntg) mice. 22889357 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Estrogen receptor alpha gene variants are associated with Alzheimer's disease. 20674091 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE Decreased alternative splicing of estrogen receptor-α mRNA in the Alzheimer's disease brain. 20417581 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE We analyzed 39 SNPs in ESR1 and 5 SNPs in ESR2 in a French case-control study of sporadic AD (1007 cases/647 controls). 21673408 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Progression from amnesic mild cognitive impairment to Alzheimer's disease: ESR1 and ESR2 polymorphisms and APOE gene. 22311091 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The relationships between ESR1 and cognitive impairment tend to be specific to or driven by women and restricted to risk for Alzheimer disease rather than other dementia causes. 20616674 2010