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 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 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 Exon 3 hypermethylation in the POMC locus represents the first identified DNA methylation variant that is associated with the individual risk for obesity. 22438814 2012
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Risk of substance dependence (SD) and obesity has been linked to the function of melanocortin peptides encoded by the proopiomelanocortin gene (POMC). 23028917 2012
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 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 Biomarker disease BEFREE Alpha melanocyte stimulating hormone (αMSH), a key regulator of these neuronal pathways, is derived from pro-opiomelanocortin (POMC) which is therefore a prime target for the programming of obesity. 21211530 2011
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE In the present study, we therefore focused on dietary composition as a specific trait related to obesity and we determined whether genetic variations in leptin (LEP), LEP receptor (LEPR), adiponectin (ADIPOQ), IL-6 and pro-opiomelanocortin (POMC) underlie specific native food preferences and obesity-related anthropometric parameters. 19747414 2010
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 CTD_human Cushing's disease in dogs and humans. 19153526 2009
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE A new study in this issue of the JCI reveals the important role of neuropeptide degradation in regulating obesity (see the related article beginning on page 2291).Wallingford et al. provide evidence that, in mice, the enzyme prolylcarboxypeptidase (PRCP) degrades alpha-melanocyte-stimulating hormone (alpha-MSH) to an inactive form that is unable to inhibit food intake. 19620779 2009
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 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 These mutations in patients with early-onset obesity represent a novel molecular mechanism of human POMC deficiency whereby naturally occurring mutations in its N-terminal sequence impair the ability of POMC to enter the trafficking pathway in which serial propeptide processing normally occurs. 18697863 2008
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE The decreased response to alpha-MSH due to the intracellular retention of MC4R may cause early-onset obesity in the F261S pedigree of Chinese. 18837289 2008
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease BEFREE Glucose sensing by POMC neurons regulates glucose homeostasis and is impaired in obesity. 17728716 2007
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 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 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 GeneticVariation disease BEFREE These results show that a) the R236G substitution of POMC gene, although not a major cause of obesity among Italian obese children and adolescents, is associated with early onset obesity, and that b) inherited alterations of the melanocortin signaling pathway, independently of the degree of obesity, do not preclude the possibility to lose weight in mutated individuals following a hypocaloric diet. 16682835 2006
CUI: C0028754
Disease: Obesity
Obesity
0.900 Biomarker disease CTD_human This reduction in POMC message is consistent with the onset of obesity in the animals. 16289378 2006
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE We screened the POMC gene in 538 patients with severe, early-onset obesity and identified five unrelated probands who were heterozygous for a rare missense variant in the region encoding beta-MSH, Tyr221Cys. 16459314 2006
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 GeneticVariation disease BEFREE Gene polymorphisms were identified in similar percentages of severely obese and nonobese individuals, i.e., respectively, 52.5% and 51% (POMC) and 1% and 2% (MC4R). 15951321 2005
CUI: C0028754
Disease: Obesity
Obesity
0.900 GeneticVariation disease BEFREE Collectively, the POMC polymorphisms showed consistent evidence for association with obesity traits in Hispanic Americans across several analytical approaches using SNP and haplotype analysis. 16222047 2005