Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity
Authors' conclusion
This supports the relevance of expanded genetic testing in severe obesity. Early-onset obesity remains a key clinical feature to guide genetic investigation and identify patients who may benefit from early personalized care and targeted treatments.
Study context
- Population
- Patients with severe obesity, including 213 children (mean BMI 56.3 kg/m²; BMI-z-score 4.6)213 children
- Participants
- 395 patients
- Exposure
- Pathogenic variant carriers vs non-carriers
- Outcome
- Pathogenic heterozygous variants
Methodological detailstargeted next-generation sequencing, 20 genes, Phenotypic data retrospectively collected
- Targeted next-generation sequencing
- 20 genes
- Phenotypic data retrospectively collected
Main finding
As reported in the abstract
Patients with pathogenic heterozygous variants
34
8.6%
Harboring pathogenic variants in the 15 additional genes
18
Observational data: associations, not effects.
Further findings
Early-onset obesity in adults · adults
P = 0.04
Other phenotypic characteristics
- No differences were observed in the other phenotypic characteristics
Original publication
Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity. Obesity (Silver Spring). Published 26 December 2025. doi:10.
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