POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Mutations that impair POMC sorting and processing are associated with obesity in humans and in animals. 21208604 2011
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Thus, the aim of the present study is to verify the influence of LEPR polymorphism (rs2767485) on serum orexigenic (NPY, MCH and AgRP) and anorexigenic (Leptin and α-MSH) neuropeptides levels among obese adolescents submitted to 1year of multicomponent weight loss therapy. 28801068 2017
CUI: C0028754
Disease: Obesity
Obesity
0.900 AlteredExpression disease BEFREE In obesity, the activated innate immune system leads to increased interleukin (IL)-1β, which is known to stimulate the release of adrenocorticotropin hormone (ACTH). 28324042 2017
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Earlier pharmacological and POMC gene transfer studies demonstrate that melanocortin activation in either site alone improves insulin sensitivity and reduces obesity. 21366729 2011
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Patients with rare defects in the gene encoding proopiomelanocortin (POMC) have extreme early-onset obesity, hyperphagia, hypopigmentation, and hypocortisolism, resulting from the lack of the proopiomelanocortin-derived peptides melanocyte-stimulating hormone and corticotropin. 27468060 2016
CUI: C0028754
Disease: Obesity
Obesity
0.900 PosttranslationalModification disease BEFREE Hypothalamic proopiomelanocortin promoter methylation becomes altered by early overfeeding: an epigenetic model of obesity and the metabolic syndrome. 19723777 2009
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Glucocorticoids exacerbate obesity and insulin resistance in neuron-specific proopiomelanocortin-deficient mice. 16440060 2006
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE The aim of this work was a comparative study of the localization and number of leptin receptors (LepR), types 1 and 2 dopamine receptors (D<sub>1</sub>R, D<sub>2</sub>R), 5-HT<sub>1B</sub>R and 5-HT<sub>2C</sub>R on the POMC-neurons and the expression of the genes encoding them in the ARC of the normal and diet-induced obese (DIO) rodents and the agouti mice (A <sup>y</sup> /a) with the melanocortin obesity. 29397535 2018
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Consistent with a pivotal role of the melanocortin system in the control of energy homeostasis, disruption of the Pomc gene causes hyperphagia and obesity. 30395773 2018
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Few genes such as leptin, leptin receptor encoded by the db (diabetes), pro-opiomelanocortin, AgRP and NPY and melanocortin-4 receptors and insulin-induced gene 2 were linked to obesity. 27623943 2016
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Our study advances the understanding of the molecular nature of hypothalamic POMC neurons and will be useful to determine whether polymorphisms in POMC regulatory regions play a role in the predisposition to obesity. 15798195 2005
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE A fluorescence resonance energy transfer study showed an interaction between GTRAP3-18 and POMC <i>in vitro</i> These findings suggest that activation of the melanocortin pathway by modulating GTRAP3-18/POMC interaction could be an alternative strategy for obesity and/or type 2 diabetes.-Aoyama, K., Bhadhprasit, W., Watabe, M., Wang, F., Matsumura, N., Nakaki, T. GTRAP3-18 regulates food intake and body weight by interacting with pro-opiomelanocortin. 28904020 2018
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Here we report that though they are obese, mice deficient in POMC (and, thereby, deficient in alpha-MSH) are euglycemic throughout their lives. 12851327 2003
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE The availability of a large extended pedigree provided the opportunity to address whether loss of one copy of the POMC gene was sufficient to alter obesity risk. 16936203 2006
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE POMC has also been identified as one of the candidate loci for polycystic ovary syndrome (PCOS) which features hyperandrogenism and some prevalence of obesity in patients. 31237951 2019
CUI: C0028754
Disease: Obesity
Obesity
0.900 AlteredExpression disease BEFREE In particular, both obesity and aging are associated with rewiring of a principal brain pathway modulating energy homeostasis, promoting reduced activity of satiety pro-opiomelanocortin (POMC) neurons within the arcuate nucleus of the hypothalamus (ARC). 25051442 2014
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE A 71-year-old female with general fatigue, central obesity and impaired glucose tolerance was diagnosed with Cushing's syndrome due to elevated ACTH (192.9 pg/mL; normal range, 7.2-63.3 pg/mL), cortisol (73.1 μg/dL; 6.4-21.0 μg/dL) and 24-h urinary free cortisol (UFC) (6160 μg/day; 11.2-80.3 μg/day) levels. 29587720 2018
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Although the primary cause of obesity is unknown, there is significant effort to understand the role of the central melanocortin pathway in the brain as it has been shown that deficiency of proopiomelanocortin (POMC) [10,11] and melanocortin 4 receptors (MC4R) [12-15] in both rodents and humans results in severe hyperphagia and obesity [16-23]. 28499988 2017
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE These findings further support the hypothesis that POMC-derived peptides might have a role in the control of peripheral glucose metabolism and suggest that disruption of central POMC secretion might represent an additional link between type 2 diabetes and obesity. 22643178 2012
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE In this study, we did not find association between the frequently studied ENPP1 K121Q variant, nor SNPs in the MCR or POMC genes and obesity or type 2 diabetes. 18551113 2008
CUI: C0028754
Disease: Obesity
Obesity
0.900 AlteredExpression disease BEFREE The obesity is associated with impaired autocatalytic activation of mature PC1 and reduced hypothalamic alpha-MSH. 16644867 2006
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE These findings show that males are more responsive to the pleiotropic actions of N/OFQ at anorexigenic VMN SF-1/ARC POMC synapses, and this responsiveness can be further enhanced under conditions of diet-induced obesity/insulin resistance. 30755252 2019
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE The aim of this study was to investigate the possible associations of defined variability in leptin, leptin receptor, adiponectin, proopiomelanocortin and ghrelin genes with food preferences in the obese and non-obese Czech population and evaluate their potential as the obesity susceptibility genes. 18510797 2008
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Our results indicate that TAp63 in female POMC neurons contributes to the enhanced POMC neuron functions and resistance to obesity in females. 29670083 2018
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE The genes at these loci include agouti, which encodes a molecule that antagonizes the binding of alpha melanocyte-stimulating hormone to its receptor; fat, which encodes carboxypeptidase E; tubby, which encodes a putative phosphodiesterase; obese, which encodes a circulating satiety protein; and diabetes, which encodes the receptor for the obese gene product. 8939064 1996