Oligogenic inheritance in severe adult obesity
Authors' conclusion
Oligogenic inheritance may explain some of the variable penetrance in Mendelian forms of obesity. We caution clinicians and researchers to avoid confining sequence analysis to individual genes and, in particular, not to stop looking when the first potentially-causative mutation is found.
Study context
- Population
- 15-year-old male proband of Pakistani ancestry with severe obesity and his family; 91 unrelated adults with severe obesity (86% white European ancestry) from the Personalised Medicine for Morbid Obesity (PMMO) cohort, recruited from the UK NHSproband + 91 PMMO adults
- Outcome
- Oligogenic inheritance of obesity
Methodological detailscase report with family segregation analysis and cohort sequence re-analysis, whole-exome sequencing, Sanger sequencing family segregation analysis, re-analysis of existing whole-exome sequencing (WES) data
- Case report with family segregation analysis and cohort sequence re-analysis
- Whole-exome sequencing
- Sanger sequencing family segregation analysis
- Re-analysis of existing WES data
Main finding
As reported in the abstract
- PMMO patients carrying >1 rare, predicted-deleterious mutation in a known monogenic obesity gene
- 2
Observational data: associations, not effects.
Original publication
Oligogenic inheritance in severe adult obesity. Int J Obes (Lond). Published 31 January 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →