ArticleThe American journal of clinical nutrition2010
Evidence that multiple genetic variants of MC4R play a functional role in the regulation of energy expenditure and appetite in Hispanic children.
Article in The American journal of clinical nutrition, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
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- Association of the rs17782313, rs17773430 and rs34114122 Polymorphisms of/nearChildren (Basel, Switzerland) · 2023Article
- Lipocalin 2 - mutation screen and serum levels in patients with anorexia nervosa or obesity and in lean individuals.Frontiers in endocrinology · 2023Article
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- Maternal BMI-Increasing Genetic Risk Score and Fetal Weights among Diverse US Ethnic Groups.Obesity (Silver Spring, Md.) · 2019Article
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- Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity.BMC medical genetics · 2018Article
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- Transcriptome assembly and candidate genes involved in nutritional programming in the swordtail fishPeerJ · 2017Article
- Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.International journal of obesity (2005) · 2017Article
- Interaction of smoking and obesity susceptibility loci on adolescent BMI: The National Longitudinal Study of Adolescent to Adult Health.BMC genetics · 2015Article
- Fuel homeostasis and locomotor behavior: role of leptin and melanocortin pathways.Journal of endocrinological investigation · 2015Review
- Evaluating the association of APOA2 polymorphism with insulin resistance in adolescents.Meta gene · 2014Article
- Inhibition of the central melanocortin system decreases brown adipose tissue activity.Journal of lipid research · 2014Article
- Brain-derived neurotrophic factor in human subjects with function-altering melanocortin-4 receptor variants.International journal of obesity (2005) · 2014Article
- Preliminary findings on the influence of FTO rs9939609 and MC4R rs17782313 polymorphisms on resting energy expenditure, leptin and thyrotropin levels in obese non-morbid premenopausal women.Journal of physiology and biochemistry · 2014Article
- The genetics of childhood obesity and interaction with dietary macronutrients.Genes & nutrition · 2013Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundMelanocortin-4-receptor (MC4R) haploinsufficiency is the most common form of monogenic obesity; however, the frequency of MC4R variants and their functional effects in general populations remain uncertain.
objectiveThe aim was to identify and characterize the effects of MC4R variants in Hispanic children.
designMC4R was resequenced in 376 parents, and the identified single nucleotide polymorphisms (SNPs) were genotyped in 613 parents and 1016 children from the Viva la Familia cohort. Measured genotype analysis (MGA) tested associations between SNPs and phenotypes. Bayesian quantitative trait nucleotide (BQTN) analysis was used to infer the most likely functional polymorphisms influencing obesity-related traits.
resultsSeven rare SNPs in coding and 18 SNPs in flanking regions of MC4R were identified. MGA showed suggestive associations between MC4R variants and body size, adiposity, glucose, insulin, leptin, ghrelin, energy expenditure, physical activity, and food intake. BQTN analysis identified SNP 1704 in a predicted micro-RNA target sequence in the downstream flanking region of MC4R as a strong, probable functional variant influencing total, sedentary, and moderate activities with posterior probabilities of 1.0. SNP 2132 was identified as a variant with a high probability (1.0) of exerting a functional effect on total energy expenditure and sleeping metabolic rate. SNP rs34114122 was selected as having likely functional effects on the appetite hormone ghrelin, with a posterior probability of 0.81.
conclusionThis comprehensive investigation provides strong evidence that MC4R genetic variants are likely to play a functional role in the regulation of weight, not only through energy intake but through energy expenditure.
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