ArticleMolecular genetics & genomic medicine2016
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group.
Article in Molecular genetics & genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Assessment of Eating Behavior and Genetic Risk Factors for Metabolic Syndrome.Journal of clinical medicine · 2026Article
- Case Report: rapid progressive puberty in siblings withFrontiers in endocrinology · 2026Article
- Exploring the Interplay of Genetics and Nutrition in the Rising Epidemic of Obesity and Metabolic Diseases.Nutrients · 2024Review
- Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.Cell reports · 2021Article
- Interaction between Metabolic Genetic Risk Score and Dietary Fatty Acid Intake on Central Obesity in a Ghanaian Population.Nutrients · 2020Article
- Identification of a Rare and Potential PathogenicFrontiers in genetics · 2020Article
- Characterization of Rare Variants in MC4R in African American and Latino Children With Severe Early-Onset Obesity.The Journal of clinical endocrinology and metabolism · 2019Article
- Identification of theDiabetes, metabolic syndrome and obesity : targets and therapy · 2019Article
- Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred.BMC medical genetics · 2018Article
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Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Obesity is a global epidemic that results in significant morbidity and mortality. Mutations in the melanocortin 4 receptor (MC4R) gene, which codes for a G-protein-coupled receptor responsible for postprandial satiety signaling, have been associated with monogenic obesity. The prevalence of obesity is on the increase in South Africa, and it is hypothesized that mutations in MC4R are a contributing factor. The aim of this study was to perform a retrospective assessment of the relationship between allelic variants of MC4R and BMI in a South African study cohort. DNA was isolated from a demographically representative cohort of 297 individuals and the entire MC4R gene sequenced by Sanger sequencing. Eight previously reported MC4R variants were identified in 42 of the 297 (14.1%) study participants. The most frequently observed MC4R alleles were V103I (4.0%), I170V (1.5%), and I198I (1.2%), while the remaining five variants together constituted 1.18%. Five compound heterozygotes were also detected. Although MC4R variants were rare, the majority of variation was observed in individuals of Black African ancestry. No statistically significant associations with BMI were reported. Given that lifestyle interventions have limited success in decreasing obesity, there is an urgent need to perform large-scale population studies to further elucidate the molecular underpinnings of this disease.
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