Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals
Authors' conclusion
Overall, 12.9% of patients had monogenic obesity or a potentially obesogenic variant. These findings suggest that genetic testing should not be limited to patients with extreme obesity. Current obesity panels miss crucial syndromic genes, demonstrating a need for more comprehensive panels and the superiority of whole-exome sequencing in obesity.
Study context
- Population
- Patients with obesity who underwent genetic testing (84.7% whole-exome analysis, 15.3% multi-thousand-gene panel)
- Participants
- 521 patients
- Outcome
- Diagnostic yield of monogenic obesity using exome-wide data
Methodological detailsexome-wide
- Exome-wide
Main finding
As reported in the abstract
Diagnostic yield of monogenic obesity
Monogenic obesity diagnosed
5.8%
Carried a potentially obesogenic variant
7.1%
Monogenic obesity or potentially obesogenic variant
12.9%
Observational data: associations, not effects.
Further findings
Diagnostic yield by subgroup
- Diagnostic yield in children
- 6.3%
- Diagnostic yield in syndromic obesity
- 7.0%
- Diagnostic yield was lower in severe obesity cases
Genes not included in current obesity panels
- Patients with monogenic obesity carrying variants in genes not in current obesity panels
- 40%
Original publication
Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals. Int J Obes (Lond). Published 16 June 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →