ArticleDiabetes2012
Greater impact of melanocortin-4 receptor deficiency on rates of growth and risk of type 2 diabetes during childhood compared with adulthood in Pima Indians.
Article in Diabetes, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Assessing the Role of 98 Established Loci for BMI in American Indians.Obesity (Silver Spring, Md.) · 2019Pooled it
- Variation at the melanocortin 4 receptor gene and response to weight-loss interventions in the diabetes prevention program.Obesity (Silver Spring, Md.) · 2013Trial
- Associations of the FTO rs9939609 and the MC4R rs17782313 polymorphisms with type 2 diabetes are modulated by diet, being higher when adherence to the Mediterranean diet pattern is low.Cardiovascular diabetology · 2012Trial
- Case Report: rapid progressive puberty in siblings withFrontiers in endocrinology · 2026Article
- Identification and functional validation of rare coding variants in genes linked to monogenic obesity.Obesity (Silver Spring, Md.) · 2024Article
- Association of meleanocortin 4 receptor gene polymorphism (MC4R:C.92C>T) with feline diabetes.Journal of advanced veterinary and animal research · 2024Article
- Cardiometabolic Risk Markers in Children With Obesity and Variants inJournal of the Endocrine Society · 2024Article
- Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.Scientific reports · 2024Article
- Large-scale exome sequence analysis identifies sex- and age-specific determinants of obesity.Cell genomics · 2023Article
- Neurotransmitters in Type 2 Diabetes and the Control of Systemic and Central Energy Balance.Metabolites · 2023Review
- Diagnostic criteria and etiopathogenesis of type 2 diabetes and its complications: Lessons from the Pima Indians.Presse medicale (Paris, France : 1983) · 2023Review
- Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.European journal of human genetics : EJHG · 2022Article
- Functional variants in cytochrome b5 type A (CYB5A) are enriched in Southwest American Indian individuals and associate with obesity.Obesity (Silver Spring, Md.) · 2022Article
- Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.Nature medicine · 2021Article
- Melatonin for an obese child withWorld journal of clinical cases · 2021Article
- Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.Obesity (Silver Spring, Md.) · 2021Article
- The MC4R p.Ile269Asn mutation confers a high risk for type 2 diabetes in the Mexican population via obesity dependent and independent effects.Scientific reports · 2021Article
- Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.International journal of obesity (2005) · 2021 · on this mapArticle
- Weight tracking in childhood and adolescence and type 2 diabetes risk.Diabetologia · 2020Article
- Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.American journal of human genetics · 2020Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Features of melanocortin-4 receptor (MC4R) deficiency have been observed to be more pronounced in childhood. Longitudinal data from a population-based study were used to separate the phenotypic effects of MC4R deficiency during childhood and adulthood. The MC4R exon was sequenced in 6,760 individuals of predominantly Pima Indian heritage, and discovered mutations were functionally assessed in vitro. Effects on BMI, height, and slope of BMI change were assessed during childhood (ages 5-20 years) and adulthood (ages 20-45 years). Six mutations affecting MC4R function, including three that may be private to Pima Indians, were found in 159 individuals (2.4%). The slope of BMI increase was greater in individuals carrying an MC4R mutation compared with noncarriers during childhood but not during adulthood. The final adult height obtained was higher in individuals with MC4R deficiency. There was an increased risk for developing type 2 diabetes in individuals with a defective MC4R during childhood and adulthood, but this was only independent of BMI in childhood. The greater rates of body mass accumulation and risk of type 2 diabetes before the age of 20 years in individuals with MC4R deficiency indicate that the effects of these mutations are more apparent during the active growth of childhood.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.