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: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE We studied the significance of BsmI restriction enzyme polymorphism of the vitamin D receptor (VDR) gene and the XbaI and PvuII polymorphisms of the estrogen receptor (ER) gene in patients with type 2 diabetes (n=49), android type obesity with normal carbohydrate metabolism (n=29) and healthy controls (n=138). 11275948 2001
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Genotypes for ACE, GCK, and ESR1 may prove reliable for the assessment of genetic factors for obesity. 17016614 2006
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE 23 ESR1 and 11 ESR2 tag-SNPs, covering most of the common haplotype variation in each gene according to HAPMAP data, were analysed by Chi2 for association with obesity in a cohort comprising 705 adults with severe obesity and 402 lean individuals. 18053221 2007
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE It appears likely that ESR1 contributes to type 2 diabetes and CVD risk via pleiotropic effects, leading to insulin resistance, a poor lipid profile, and obesity. 17513703 2007
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE To evaluate the relationship between obesity and the ratio of estrogen receptor subtypes (ERalpha/ERbeta) in adipose tissues in pre- and postmenopausal women, we measured the anthropometric indices of 31 premenopausal women and 12 postmenopausal women. 17509633 2007
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE To determine whether oestrogen receptor (ER)alpha messenger RNA (mRNA) levels or single nucleotide polymorphisms (SNPs) are associated with obesity in Swedish women. 17224934 2007
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE The rs2234693 C allele of ESR1 and its associated genotypes and haplotypes were inversely and consistently associated with obesity. 19375130 2009
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families. 19960008 2009
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease CTD_human Biological and biochemical consequences of global deletion of exon 3 from the ER alpha gene. 20667977 2010
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE BMI was positively associated with all-cause mortality for women diagnosed at age > or =50 years with ER-positive tumors (compared with normal-weight women, HR for overweight = 1.39, 95% CI: 0.90-2.15; HR for obese = 1.77, 95% CI: 1.11-2.82). 20140702 2010
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease RGD Here we investigated the role of ER alpha and ER beta in a model of nutrition induced obesity. 22230815 2012
CUI: C0028754
Disease: Obesity
Obesity
0.600 AlteredExpression disease BEFREE In multiple public expression data sets of breast cancers (representing > 1,500 patients), manifestation of the obesity signature patterns correlated with manifestation of a gene signature for IGF signaling and (to a lesser extent) with lower levels of estrogen receptor. 21750966 2012
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE Since obesity and osteoporosis present a high genetic predisposition and polymorphisms of IL-6, IL6R, LRP5, ESR1 and SP7 may influence the risk of both diseases, the aim of this study was to analyze the possible association of polymorphisms in these genes, as well as their haplotypes, with BMD variations in postmenopausal Mexican-Mestizo women with grade 2 or grade 3 obesity. 23891823 2013
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE Obesity increases the risk of cancer death among postmenopausal women with estrogen receptor-positive (ER+) breast cancer, but the direct evidence for the mechanisms is lacking. 24957076 2014
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE Variants of estrogen receptor α (ERα) have been associated with obesity, dyslipidemia, diabetes and blood pressure. 24140101 2014
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Considering that inactivation of estrogen receptor (ER)α promotes obesity and metabolic dysfunction in women and female mice, understanding the mechanisms and tissue-specific sites of ERα action to combat metabolic-related disease, including BrCA, is of clinical importance. 25468909 2015
CUI: C0028754
Disease: Obesity
Obesity
0.600 AlteredExpression disease BEFREE These results suggest that adipocytes can modify breast cancer cell ER gene expression through hypoxia and also can promote EMT processes in breast cancer cells, supporting an important role of obesity in aggressive breast cancer development. 25823469 2015
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE Obesity was significantly associated with differential methylation (FDR q < 0.05) in just two gene loci in breast tumor tissue overall and in 21 loci among ER-positive tumors. 25583948 2015
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Obesity is associated with a worse breast cancer prognosis, particularly in estrogen receptor alpha (ERα) positive, postmenopausal patients. 25476497 2015
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Obesity is an established risk factor for postmenopausal breast cancer (BCa), insulin resistance, and vitamin D deficiency, and all contribute to increased synthesis of mammary estrogens, the drivers of estrogen receptor-positive (ER+) BCa growth. 26817629 2016
CUI: C0028754
Disease: Obesity
Obesity
0.600 AlteredExpression disease BEFREE Herein, we found that BMP4 deficiency in white adipose tissue (WAT) increased the estrogen receptor α (ERα) level and its signaling, which prevented adult female mice from developing high fat diet (HFD)-induced obesity and insulin resistance; estrogens depletion up regulated BMP4 expression to overcome overt adiposity and impaired insulin sensitivity with aging, and failure of BMP4 regulation due to genetic knockout led to more fat gain in aged female mice. 27522322 2016
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE The data suggest a possibility that dietary <i>S</i>-equol could be an alternative to hormone replacement therapy for the prevention of hyperphagia and obesity with a lower risk of adverse effects induced by ER-α stimulation. 29097993 2017
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Thus, it is speculated that such ESR1 epigenetic changes may be influenced or shaped by obesity and reproductive history-related factors before and during breast carcinogenesis. 28708432 2017
CUI: C0028754
Disease: Obesity
Obesity
0.600 Biomarker disease BEFREE Selective Activation of Estrogen Receptor α Activation Function-1 Is Sufficient to Prevent Obesity, Steatosis, and Insulin Resistance in Mouse. 28502695 2017
CUI: C0028754
Disease: Obesity
Obesity
0.600 GeneticVariation disease BEFREE The insulin signaling network is influenced by obesity and may interact with the estrogen receptor α (ERα) signaling. 29234306 2017