|
Obesity
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.
|
18559663 |
2008 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six other SNPs, rs2815752 (NEGR1), rs10938397 (GNPDA2), rs10838738 (MTCH2), rs7498665 (SH2B1), rs17782313 (MC4R) and rs11084753 (KCTD15), were not associated with obesity (P>0.05).
|
22083549 |
2012 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children.
|
24139164 |
2014 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most of these obesity disorders exhibit a distinct phenotype with varying degrees of hypothalamic and pituitary dysfunction and a recessive inheritance, whereas MC4-R mutation has a nonsyndromic phenotype with dominant inheritance.
|
10508193 |
1999 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Metabolic and hormonal consequencies of the "obesity risk" MC4R variant (rs12970134) in Czech women.
|
26680479 |
2015 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MC4R mutations are not a common cause of obesity in Norway and screening of obese patients does not appear to be warranted.
|
19301229 |
2009 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, Pomc knockout mice were generated and shown to develop hyperphagia and obesity with a time-course and severity comparable to MC4-R knockout mice, whereas daily administration of a stable alpha-melanocyte stimulating hormone analogue reversed this effect.
|
10885325 |
2000 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the MC4R locus explains only 0.28% of the BMI and 0.14% of the WC phenotypic variance in the Scottish population, most of the genetic contribution to obesity remains to be identified.
|
19050674 |
2009 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, this study confirmed and extended the previous findings, suggesting the MC4R V103I polymorphism is negatively associated with human obesity.
|
19696756 |
2010 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In conclusion, a pathogenic MC4R mutation was found among subjects with severe early-onset obesity but not among morbidly obese adults.
|
14764818 |
2004 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
CTD_human |
UBE41 had much less profound effects on MC4R I316S, another obesity-linked MC4R variant trapped in the ER.
|
23251400 |
2012 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
CTD_human |
Point mutations in the melanocortin-4 receptor cause variable obesity in mice.
|
17143585 |
2006 |
|
Obesity
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating.
|
16507637 |
2006 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in melanocortin-4 receptor (MC4R) are the most frequent genetic cause of obesity.
|
20957447 |
2011 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In our study, we addressed the hypothesis that a G-->A substitution at codon 103 (Val-103Ile) of the MC4R gene influences abdominal obesity, insulin, glucose, and lipid metabolism as well as circulating hormones, including salivary cortisol.
|
11692184 |
2001 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These pharmacological data provide a basis to estimate the quantitative effect of MC4R mutations for the development of obesity.
|
12690102 |
2003 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that rare heterozygous MC4R mutations contribute to the onset of obesity only in a few cases in the Slovak population.
|
26244670 |
2016 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The fat mass and obesity (FTO) and melanocortin-4 receptor (MC4R) genes have been consistently associated with the risk for obesity, but few studies have examined the association of the obesity risk alleles with gestational outcomes.
|
27377581 |
2017 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We aimed to determine the prevalence of melanocortin-4 receptor (MC4R) variants in a large German cohort of children with obesity in a pediatric outpatient clinic and to ascertain whether there is a specific phenotype associated with loss-of-function variants as previously reported.
|
27654141 |
2017 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Female mice heterozygous for Mc4r fed an obesogenic or a control diet for 5 weeks were mated with heterozygous males, with the same diet continued throughout pregnancy and lactation, generating four offspring groups: control wild type (C_wt), control knockout (C_KO), obese wild type (Ob_wt), and obese knockout (Ob_KO).
|
28930194 |
2017 |
|
Obesity
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Downstream variants of the melanocortin-4 receptor (MC4R) gene have been associated with obesity in various populations.
|
22310352 |
2013 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
BEFREE |
The effect of hyperphagia and obesity by MC4R KO on pulsatile luteinizing hormone (LH) secretion and ovulation remains unknown.
|
28003536 |
2017 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
BEFREE |
Obesity is a heritable disorder, and some of the many obesity susceptible genes are fat mass and obesity (FTO), leptin, and Melanocortin-4 receptor (MC4R).
|
28924523 |
2017 |
|
Obesity
|
1.000 |
Biomarker
|
disease |
RGD |
Expression of new loci associated with obesity in diet-induced obese rats: from genetics to physiology.
|
21779089 |
2012 |