ArticleInternational journal of obesity (2005)2021
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.
Article in International journal of obesity (2005), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 46 citations in OpenAlex.
- Monogenic obesity due to MC4R deficiency: lessons from a multigenerational case.Molecular and cellular pediatrics · 2026Article
- Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.Nature communications · 2025Article
- Polygenic Risk Score Associated with Gestational Diabetes Mellitus in an AmericanIndian Population.Journal of personalized medicine · 2025Article
- Whole exome sequencing and polygenic risk assessment for kidney functions and clinical management in both hospital-based cohort and population-based Asian cohorts.Journal of biomedical science · 2025Article
- Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.Journal of the Endocrine Society · 2025Article
- Neuroendocrinology and the Genetics of Obesity.Endocrinology · 2025Review
- Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.Genome biology · 2025Article
- Integrating Genetic Insights, Technological Advancements, Screening, and Personalized Pharmacological Interventions in Childhood Obesity.Advances in therapy · 2025Review
- Melanocortin 4 receptor mutation in obesity.World journal of experimental medicine · 2024Review
- Setmelanotide: A Melanocortin-4 Receptor Agonist for the Treatment of Severe Obesity Due to Hypothalamic Dysfunction.TouchREVIEWS in endocrinology · 2024Review
- Association of meleanocortin 4 receptor gene polymorphism (MC4R:C.92C>T) with feline diabetes.Journal of advanced veterinary and animal research · 2024Article
- Identifying latent genetic interactions in genome-wide association studies using multiple traits.Genome medicine · 2024Article
- Metabolic underpinnings of cancer-related fatigue.American journal of physiology. Endocrinology and metabolism · 2024Review
- Predisposition of the CommonGenes · 2023Article
- Review
- Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.International journal of obesity (2005) · 2022Article
- Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.Molecules (Basel, Switzerland) · 2022Article
- Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.Diabetes, obesity & metabolism · 2022Review
- Genetic variation in satiety signaling and hypothalamic inflammation: merging fields for the study of obesity.The Journal of nutritional biochemistry · 2022Review
- Genetics, genomics, and diet interactions in obesity in the Latin American environment.Frontiers in nutrition · 2022Review
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Authors and funding
21 authors at 12 institutions in 1 country.
Funding
Abstract
BACKGROUND/
objectivesMelanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have been described over the past two decades, with conflicting reports regarding the prevalence and phenotypic effects of these variants in diverse cohorts. To determine the frequency of MC4R variants in large cohort of different ancestries, we evaluated the MC4R coding region for 20,537 eMERGE participants with sequencing data plus additional 77,454 independent individuals with genome-wide genotyping data at this locus. SUBJECTS/
methodsThe sequencing data were obtained from the eMERGE phase III study, in which multisample variant call format calls have been generated, curated, and annotated. In addition to penetrance estimation using body mass index (BMI) as a binary outcome, GWAS and PheWAS were performed using median BMI in linear regression analyses. All results were adjusted for principal components, age, sex, and sites of genotyping.
resultsTargeted sequencing data of MC4R revealed 125 coding variants in 1839 eMERGE participants including 30 unreported coding variants that were predicted to be functionally damaging. Highly penetrant unreported variants included (L325I, E308K, D298N, S270F, F261L, T248A, D111V, and Y80F) in which seven participants had obesity class III defined as BMI ≥ 40 kg/m
conclusionsMC4R screening in a large eMERGE cohort confirmed many previous findings, extend the MC4R pleotropic effects, and discovered additional MC4R rare alleles that probably contribute to obesity.
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