|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The contribution of the POMC gene variants we studied to pediatric-onset obesity seems to be limited.
|
12740451 |
2003 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To further define the MC4R pathway and its potential impact on obesity, we tested associations between body mass index (BMI) and LoF mutation burden in the POMC, PCSK1, and LEPR genes in various populations.
|
29726959 |
2018 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that mutations in the POMC gene do not contribute to the variance of obesity associated phenotypes, at least in French Caucasians.
|
11151766 |
2000 |
|
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 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In order to examine whether more subtle genetic variants in POMC might contribute to early-onset obesity, the coding region of the gene was sequenced in 262 Caucasian subjects with a history of severe obesity from childhood.
|
12165561 |
2002 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Molecular and functional genetics of the proopiomelanocortin gene, food intake regulation and obesity.
|
28771698 |
2017 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in exon 3 of the proopiomelanocortin gene in relation to serum leptin, salivary cortisol, and obesity in Swedish men.
|
11979399 |
2002 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings support the hypothesis that the melanocortin pathway may modulate glucose metabolism in obese subjects and suggest that this common POMC variant may be involved in the natural history of polygenic obesity in late adolescence and adulthood, contributing to the link between type 2 diabetes and obesity.
|
15472174 |
2004 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity.
|
24890885 |
2015 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Like leptin, mutations in POMC or in central melanocortin receptors lead to obesity in humans.
|
12481551 |
2002 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, three different mutations in the POMC gene (POMC) were identified in two unrelated children that lead to early-onset extreme obesity, adrenal insufficiency, and red hair pigmentation.
|
9768693 |
1998 |
|
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 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that obesity in mice lacking the <i>Bbs1</i> gene in POMC neurons is associated with hyperphagia.
|
31127052 |
2019 |
|
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 |
|
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 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The best interaction model for predicting obesity risk by MDR analysis was the three factor model including POMC (C > T), MC4R (T > C) and APOE (Hha1) polymorphisms.
|
26226973 |
2016 |
|
Obesity
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in AGRP and alpha MSH genes were not among the causes of obesity in our population.
|
11487744 |
2001 |
|
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 |