MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE 17 patients with obesity-causing MC4R mutations (BMI: 35.5 ± 7.6) and 35 matched control participants with common obesity (BMI: 34.3 ± 7.1) underwent a DEXA scan for assessment of bone mineral density (BMD), bone mineral apparent density [BMAD = (BMD/√(bone area)], and bone turnover markers (BTMs). 31471646 2020
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE The MC4R p.Ile269Asn mutation accounted for a population attributable risk of 1.28% and 0.68% for childhood and adult obesity, respectively, in the Mexican population. 31841602 2020
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE The mechanisms underlying altered MC4R trafficking in the context of obesity is still unclear. 31666192 2020
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Accordingly, MC4R is a potential drug target to combat obesity. 30642682 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Previous studies have shown that the melanocortin 4 receptor (MC4R) and hepatocyte nuclear factor 4 alpha (HNF4α) genes are associated with obesity and metabolic disorders. 31305461 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE We believe that our study may help to understand better the impact of MC4R gene on obesity development, and to help to provide personalized prevention/treatment strategies to fight against obesity and its metabolic consequences. 30945034 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Mutations leading to a reduced function of the melanocortin-4 receptor (MC4R) exert a major gene effect on extreme obesity. 31035493 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE While most MC4R variants caused loss of function, a subset caused gain of function; these variants were associated with significantly lower BMI and lower odds of obesity, type 2 diabetes, and coronary artery disease. 31002796 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals. 30981838 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Insights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach. 30048591 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE These data provide support for two hypotheses: (i) that the majority of these rare, obesity-associated mutations are likely defective and causative of obesity and (ii) that β-arrestin recruitment is a valuable marker of normal MC4R function. 31529534 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Celastrol Reduces Obesity in MC4R Deficiency and Stimulates Sympathetic Nerve Activity Affecting Metabolic and Cardiovascular Functions. 30894367 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE This study aims to identify the prevalence of MC4R mutations in children with severe early-onset obesity of African American or Latino ancestry. 30811542 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Melanocortin 4 receptor (MC4R) gene polymorphisms were detected to be associated with different levels of obesity. 31429705 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Single SNP analysis showed that genetic variants in SLC30A10, TMEM18, GNPDA2, PRL, TFAP2B, BDNF, MTCH2, FTO, and MC4R were nominally associated with waist circumference (WC), BMI, and risk for abdominal or general obesity in the untreated patients with type 2 diabetes, as well as in the total group of patients with type 2 diabetes (untreated and treated) (p < 0.05). 31167208 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE MC4R-KO mice fed an HFD developed obesity and NASH. 30465867 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Our results suggested that FTO rs9939609, MC4R rs12970134, and MC4R rs17782313 are strongly associated with obesity. 30896429 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Immunoglobulin G modulation of the melanocortin 4 receptor signaling in obesity and eating disorders. 30755592 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE When the melanocortin 4 receptor (MC4R) is knocked out globally, male mice display obesity, low sexual desire, and copulatory difficulties; however, it is unclear whether these phenotypes are interdependent. 30756300 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis. 30306707 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Our study pointed out the role of MC4R rs17782313 and ENPP1 rs1044498 genotypes in obesity determinisms in mothers and their newborns in correlation with BMI, MUAC, TST and bioimpedance parameters. 31350533 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE Association study between LEPR, MC4R polymorphisms and overweight/obesity in Chinese Han adolescents. 30641221 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation disease BEFREE In addition, BDNF rs6265 and MC4R rs17782313 showed gender-dependent associations with decreased risk of having low HDL-C in males and increased risk of having abdominal obesity in females, respectively. 31502573 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE Melanocortin-4 receptor (<i>MC4R</i>) has been reported to be associated with the risk of obesity, and metabolically unhealthy obese (MUHO) patients tend to have a greater risk of cardiovascular complications than metabolically healthy obese (MHO) patients. 31781208 2019
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker disease BEFREE However, when MC4R-deficient rats were food restricted to prevent obesity, CIH-induced hypertension was attenuated by 32%. 30466186 2019