ArticleInternational journal of obesity (2005)2020
Heterozygous rare genetic variants in non-syndromic early-onset obesity.
Article in International journal of obesity (2005), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.Obesity facts · 2026Pooled it
- Genetic variability in the leptin-melanocortin pathway and its role in weight loss.Molecular metabolism · 2026Review
- Irisin inhibits adipogenic differentiation of bone marrow mesenchymal stem cells through the SIRT1/RANBP2/FTO signaling axis and protects against osteoporosis.Cell death discovery · 2026Article
- From Risks to Roots: The Multifactorial Etiopathogenesis of Childhood Obesity.International journal of molecular sciences · 2026Review
- Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.Obesity (Silver Spring, Md.) · 2026Article
- NovelInternational journal of molecular sciences · 2026Article
- Obesity and Exercise: New Insights and Perspectives.Endocrine reviews · 2025Review
- 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
- Article
- The Interplay of UCP3 and PCSK1 Variants in Severe Obesity.Current obesity reports · 2025Review
- Molecular Genetic Architecture of Morbid Obesity in Russian Children.Biomedicines · 2025Article
- Rewriting cellular fate: epigenetic interventions in obesity and cellular programming.Molecular medicine (Cambridge, Mass.) · 2024Review
- Identification and functional validation of rare coding variants in genes linked to monogenic obesity.Obesity (Silver Spring, Md.) · 2024Article
- Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar.The Journal of clinical endocrinology and metabolism · 2023Article
- Genetics and epigenetics in the obesity phenotyping scenario.Reviews in endocrine & metabolic disorders · 2023Review
- Prevalence of genetic causes of obesity in clinical practice.Obesity science & practice · 2023Article
- Adipose Tissue Hyperplasia and Hypertrophy in Common and Syndromic Obesity-The Case of BBS Obesity.Nutrients · 2023Review
- Glucagon-like peptide-1 analog therapy in rare genetic diseases: monogenic obesity, monogenic diabetes, and spinal muscular atrophy.Acta diabetologica · 2023Review
- Functionally Significant Variants in Genes Associated with Abdominal Obesity: A Review.Journal of personalized medicine · 2023Review
- Rare HeterozygousGenes · 2022Review
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundObesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic interventions are in development for some genetic forms, emphasizing the importance of determining genetic contributions.
objectiveWe aimed to define the contribution of rare single-nucleotide genetic variants (RSVs) in candidate genes to non-syndromic severe early-onset obesity (EOO; body mass index (BMI) >+3 standard deviation score, <3 years).
methodsUsing a pooled DNA-sequencing approach, we screened for RSVs in 15 obesity candidate genes in a series of 463 EOO patients and 480 controls. We also analysed exome data from 293 EOO patients from the "Viva la Familia" (VLF) study as a replication dataset.
resultsLikely or known pathogenic RSVs were identified in 23 patients (5.0%), with 7 of the 15 genes (BDNF, FTO, MC3R, MC4R, NEGR1, PPARG and SIM1) harbouring RSVs only in cases (3.67%) and none in controls. All were heterozygous changes, either de novo (one in BDNF) or inherited from obese parents (seven maternal, three paternal), and no individual carried more than one variant. Results were replicated in the VLF study, where 4.10% of probands carried RSVs in the overrepresented genes. RSVs in five genes were either absent (LEP) or more common in controls than in cases (ADRB3, LEPR, PCSK1 and PCSK2) in both obese datasets.
conclusionsHeterozygous RSVs in several candidate genes of the melanocortin pathway are found in ~5.0% patients with EOO. These results support the clinical utility of genetic testing to identify patients who might benefit from targeted therapeutic intervention.
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