Recombinant Human Melanocortin receptor 4 (MC4R)

1. We showed that MC4R rs17782313 and FTO rs9939609 were positively associated with zBMI, with weak and very weak effects, respectively, suggesting a very scarce contribution to childhood obesity. PMID: 29679223
2. These findings show that MC4R methylation status in the blood of children is associated with metabolic profiles. Therefore, we suggest that the DNA methylation status might serve as a potential epigenetic biomarkers of metabolic syndrome. PMID: 29598821
3. This study suggests that the MC4R AA genotype is significantly associated with a shorter progression-free and overall survival in glioblastoma patients treated with radiotherapy and temozolomide. PMID: 28150230
4. This review is devoted to anatomic distribution of MC4R in the brain and interaction between MC4R and other pathways for pain modulation. PMID: 28552734
5. Results show that MC4R rs17782313 allele C was associated with higher HDL cholesterol and also showed a marginal contribution to reduced risk of MetS. These finding suggest that MC4R genetic variant may be useful biomarker of cardiometabolic risk in obese patients. PMID: 28975585
6. Genotyping for the near MC4R polymorphism, rs17782313 revealed an association with moderately obese patients PMID: 29466028
7. The polymorphism of FTO gene rs17817449 and GNB3 gene rs5443 (C825T) may be a genetic determinant of obesity in Saudi population whereas impact of MC4R Asn274Ser change could not be detected. PMID: 29937877
8. central melanocortin signalling has an effect on fat and sucrose preference in humans PMID: 27701398
9. Expression of MSH2 in patients with colon cancer may promote the expression of the obesity gene MC4R, potentially contributing to body weight gains PMID: 28537674
10. Gene polymorphisms of TNF-238G/A, TNF-308G/A, IL10-1082G/A, TNFAIP3, and MC4R and comorbidity occurrence in a Romanian population with psoriasis PMID: 29696068
11. MC4R mutations are frequently found in morbid obese Turkish children and adolescents. PMID: 28218067
12. Significant association between MC4R polymorphism and the risk of childhood obesity and BMI z-score (meta-analysis) PMID: 27926527
13. The observed prevalence of mutations causing impaired receptor function in this large cohort is comparable to other pediatric cohorts. MC4R deficiency tends to lead to a taller stature, confirming previous clinical reports. The association of MC4R mutations with a distinct phenotype concerning metabolic characteristics remains questionable. PMID: 27654141
14. The interaction between MC4R genes with dietary factors plays a significant role in the development of obesity or Type 2 diabetes phenotypes. [Review] PMID: 26666384
15. Study shows that melanocortin 4 receptor constitutive activity chronically inhibits specific subtypes of neuronal voltage-gated calcium channels. PMID: 28093215
16. Rare functional MC4R mutation carriers exhibited a significantly higher prevalence of binge eating disorder or loss-of-control eating independent of age, sex, and BMI. Six years after bariatric surgery, the mutation carriers had more major complications than wild-type subjects independent of age, baseline BMI, sex, operation type, and weight loss. PMID: 27222505
17. FTO and near MC4R variants are associated with obesity measures in Sri Lankan populations... PMID: 26948330
18. Gene polymorphism rs17782313 of the MC4R gene was associated with large artery atherosclerotic stroke susceptibility in smokers. Multifactor dimensionality reduction analysis revealed that the combination of MC4R variant (rs17782313), hypertension and smoking habit was significantly associated with increased risk of large artery atherosclerotic stroke in a Chinese Han population. PMID: 27701175
19. In a large all-adult and area-based population survey the effects of obesity-promoting minor-alleles of FTO and MCR4, and interactions with life style factors are age- and gender-related PMID: 28384342
20. the C/X genotype of the MC4R gene seems to predispose postmenopausal women to developing some metabolic syndrome symptoms PMID: 28356726
21. we performed a candidate-gene association study in a young and sportive Italian population by testing the association of functional polymorphisms in ACE (rs4646994), FTO (rs9939609), MC4R (rs17782313) and PPARG (rs1801282) genes with body mass index (BMI) and waist-to-height ratio (WHtR). PMID: 28090739
22. The family-based association analysis showed that there was a significant association between rs12970134 and obesity. rs12970134 near MC4R was associated with appetite and beverage intake. PMID: 28520814
23. The rs12970134 of melanocortin 4 receptor melanocortin was found to be associated with body mass index only in children with physical activity<1h/d and sedentary behaviors >=2h/d. PMID: 28081251
24. Genetic clues to the mechanism by which MC4R, FTO, and NMB influences changes in BMI and obesity. PMID: 27634552
25. BDNF rs2030323 is associated with 100 to 150 greater total caloric intake per allele, with additional contributions of MC4R and, in non-Hispanic white individuals, FTO. PMID: 27551991
26. The common variant rs17782313 near MC4R is associated with body mass index and measures of body fatness in children aged 2-9 years. PMID: 27583473
27. An SNP in the FTO (rs9939609) gene but not in the MC4R (rs17782313) gene was significantly associated with prepregnancy body mass index (BMI) >/=25 kg/m(2) (relative riskFTO = 2.1; 95% confidence interval [CI], 1.4-3.1). SNPs were not statistically associated with excessive gestational weight gain (GWG) or postpartum weight retention (PPWR). PMID: 27377581
28. genetic association studies in population of children in Chile: Data suggest that a polymorphism in the 3prime untranslated region of MC4R (rs17782313) is associated with eating behavior leading to overweight/obesity in the pediatric population studied (children 8-14 years old). PMID: 27730429
29. FTO rs9939609, MC4R rs17782313, and PPARgamma rs1801282 polymorphisms seem to have little effect on the incidence of metabolic malfunctions and no effect on androgen-related disorders in the examined middle-aged and elderly men. PMID: 27920511
30. Epigenetic alterations of the newly identified genes MC4R and HNF4a in early life might contribute to metabolic profile changes, especially increased triglyceride levels, in the cord blood of preterm infants. PMID: 27583872
31. The aim of this survey is to evaluate the association of genetic variants of melanocortin-4-receptor (MC4R), pro-opiomelanocortin (POMC), apolipoprotein E (APOE) and agouti-related protein (AGRP) with obesity in the North Indian population. PMID: 26226973
32. Data provide evidence that variants of MC4R and LYPLAL1 modulate body fat distribution with sexual dimorphism in a Chinese population. PMID: 26848030
33. that the FTO rs9939609 and MC4R rs17782313 variants may be significantly associated with nocturnal but not daytime blood pressure levels and their combined effects were significant in this Chinese Han population PMID: 26324055
34. The prevalence of loss-of-function MC4R variants in obese Slovak children was 0.7 %, what is one of the lowest frequencies in Europe PMID: 26047380
35. Carrying the A risk allele of the FTOrs9939609 and/or the C risk allele of the MC4Rrs17782313 did not influence body mass and fat mass loss, or resting energy expenditure decrease in obese women after a 12-week energy-restricted diet intervention PMID: 25929371
36. MC4R mutations contribute to the onset of obesity. PMID: 26244670
37. this molecular analysis of a family-based study showed an autosomal dominant pattern. Our study indicated that MC4R variations in early-onset obese Thai children were found, and transmission of these variations in each family is in the dominant pattern PMID: 26782456
38. The MC4R variant (rs12970134) was associated with increased risk for obesity in Czech women. PMID: 26680479
39. Uncontrolled eating scores were higher in C-allele carriers of MC4R-rs17782313 compared to non-carriers. PMID: 26588347
40. polymorphisms in thegene may be useful in identifying women at risk for osteoporosis. PMID: 25871004
41. Data show that co-expression with MRAPalpha, but not MRAP2, enhances MC4R constitutive activity. MRAPalpha-enhanced MC4R constitutive activity is not dependent on MC4R complex glycosylation but may result from MRAPalpha-induced changes in MC4R conformational states. PMID: 26469516
42. Drawing on recent advances in neuroscience and genetic technologies, we consider the structure and function of the melanocortin-4 receptor circuitry and its role in energy homeostasis--{REVIEW} PMID: 26814590
43. MC4R (melanocortin-4 receptor) rs17782313 gene polymorphism is associated with higher triglyceride levels in older Chinese women PMID: 26965781
44. The variant rs17782313 OF mc4r is associated with an increased risk of hypertriglyceridemia in obese children and adolescents PMID: 25948074
45. Obese children carrying the FTO GG and/or the MC4R CC genotype lost more body weight in comparison to non-carriers from a lifestyle intervention. PMID: 26849546
46. The interaction between FTO and MC4R polymorphisms is associated with the development of PCOS. PMID: 26032905
47. The age of obesity onset in the present child generation of MC4R mutation carriers is decreasing compared to the age of onset in their parents' generation. PMID: 26238496
48. FTO homozygotes and FTO heterozygotes correspond to 18.0% and 45.9% of neonates, respectively. MC4R homozygotes and MC4R heterozygotes were identified in 6.7% and 36.3% of neonates, respectively PMID: 25503666
49. There is a synergistic effect of the high-risk alleles of the FTO and MC4R genes on the obese PMID: 25402378
50. The study showed that functional variants in the MC4R gene are more commonly found in obese individuals than in non-obese individuals with binge-eating episodes. PMID: 25419636

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HGNC: 6932

OMIM: 155541

KEGG: hsa:4160

STRING: 9606.ENSP00000299766

UniGene: Hs.532833