ArticleFrontiers in endocrinology2024
Genomic deletions on 16p11.2 associated with severe obesity in Brazil.
Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review.Acta biochimica Polonica · 2026Review
- Towards Precision Medicine in Obesity: Genetic Copy Number Variations Profiling Linked to Specific Metabolic Dysregulation Patterns.International journal of molecular sciences · 2025Article
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Authors and funding
15 authors.
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Abstract
Introduction: Genetic obesity is considered a rare disease, affecting up to 10% of patients with severe early-onset obesity. Over the past years, significant advances have been made; however, the majority of patients are misdiagnosed with polygenic obesity. Thus, this study aimed to identify deleterious copy number variations (CNVs) linked to obesity and explore the clinical phenotypes. Method: The sample comprised 195 adults with severe obesity (BMI≥35kg/m Results: One patient showed a ~206 kb deletion in the distal of the 16p11.2 region, encompassing twelve genes. The gene linked to the development of severe obesity was Conclusion: Our study showed three genomic deletions at the 16p11.2 region in patients with severe obesity from Brazil. These results support the clinical utility of genetic testing to identify patients with the genetic form of obesity who may benefit from specific medical treatment, family genetic counseling, and targeted therapeutic intervention.
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