ArticleThe Journal of clinical endocrinology and metabolism2023
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.
Article in The Journal of clinical endocrinology and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 3 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Prioritizing Clinically Relevant Criteria for Longitudinal Obesity Management: A Systemic Framework to Support Decision-Making.Obesity surgery · 2026Pooled it
- Association of Mutations in theInternational journal of molecular sciences · 2026Pooled it
- Integrative Roles of Functional Foods, Microbiotics, Nutrigenetics, and Nutrigenomics in Managing Type 2 Diabetes and Obesity.Nutrients · 2025Pooled it
- Whole-exome sequencing-centered genetic evaluation for early-onset obesity in Chinese children: a retrospective single-center cohort.Translational pediatrics · 2026Article
- NovelInternational journal of molecular sciences · 2026Article
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Genetic etiology and clinical features of non-syndromic pediatric obesity in the Chinese population: a large cohort study.BMC pediatrics · 2025Article
- Article
- Childhood Obesity: A Narrative Review.Cureus · 2025Review
- Molecular Genetic Architecture of Morbid Obesity in Russian Children.Biomedicines · 2025Article
- Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways.Human molecular genetics · 2025Article
- Protein-coding mutation in Adcy3 increases adiposity and alters emotional behaviors sex-dependently in rats.Obesity (Silver Spring, Md.) · 2025Article
- Monogenic etiologies in a cohort of early onset obesity: a real-world experience from Belgium.Frontiers in endocrinology · 2025Article
- Genetic Landscape of Obesity in Children: Research Advances and Prospects.Journal of obesity · 2025Review
- Article
- Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity.International journal of molecular sciences · 2024Article
- Protein-coding mutation inbioRxiv : the preprint server for biology · 2024Article
- Case report: Nerve fiber regeneration in children with melanocortin 4 receptor gene mutation related obesity treated with semaglutide.Frontiers in endocrinology · 2024Article
- Functional Characterization of NovelInternational journal of molecular sciences · 2023Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
Abstract
contextMonogenic obesity is a rare form of obesity due to pathogenic variants in genes implicated in the leptin-melanocortin signaling pathway and accounts for around 5% of severe early-onset obesity. Mutations in the genes encoding the MC4R, leptin, and leptin receptor are commonly reported in various populations to cause monogenic obesity. Determining the genetic cause has important clinical benefits as novel therapeutic interventions are now available for some forms of monogenic obesity.
objectiveTo unravel the genetic causes of early-onset obesity in the population of Qatar.
methodsIn total, 243 patients with early-onset obesity (above the 95% percentile) and age of onset below 10 years were screened for monogenic obesity variants using a targeted gene panel, consisting of 52 obesity-related genes.
resultsThirty rare variants potentially associated with obesity were identified in 36 of 243 (14.8%) probands in 15 candidate genes (LEP, LEPR, POMC, MC3R, MC4R, MRAP2, SH2B1, BDNF, NTRK2, DYRK1B, SIM1, GNAS, ADCY3, RAI1, and BBS2). Twenty-three of the variants identified were novel to this study and the rest, 7 variants, were previously reported in literature. Variants in MC4R were the most common cause of obesity in our cohort (19%) and the c.485C>T p.T162I variant was the most frequent MC4R variant seen in 5 patients.
conclusionWe identified likely pathogenic/pathogenic variants that seem to explain the phenotype of around 14.8% of our cases. Variants in the MC4R gene are the commonest cause of early-onset obesity in our population. Our study represents the largest monogenic obesity cohort in the Middle East and revealed novel obesity variants in this understudied population. Functional studies will be required to elucidate the molecular mechanism of their pathogenicity.
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