Identification and functional validation of rare coding variants in genes linked to monogenic obesity
Authors' conclusion
In addition to MC4R, rare missense variants in KSR2 and NTRK2 may potentially explain the severe obesity observed for the carriers.
Study context
- Population
- Longitudinally studied individuals in a community with whole-exome sequence data; 15 monogenic obesity genes
- Participants
- 6,803 participants
- Comparison
- Children with max BMI z score >2 vs ≤0; adults in top 5th percentile of BMI vs below median BMI
- Outcome
- Rare nonsynonymous variants in monogenic obesity genes
Methodological detailswhole-exome sequencing, community-based, longitudinal cohort, luciferase assays
- Whole-exome sequencing
- Community-based
- Longitudinal cohort
- Luciferase assays
Performance
As reported in the abstract
- Missense variants identified in six genes (DYRK1B, KSR2, MC4R, NTRK2, PCSK1, SIM1)
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Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
Identification and functional validation of rare coding variants in genes linked to monogenic obesity. Obesity (Silver Spring). Published 28 August 2024. doi:10.
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