Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar
Authors' conclusion
We identified likely pathogenic/pathogenic variants that seem to explain the phenotype of around 14.8% of our cases. Variants in the MC4R gene are the commonest cause of early-onset obesity in our population. Our study represents the largest monogenic obesity cohort in the Middle East and revealed novel obesity variants in this understudied population. Functional studies will be required to elucidate the molecular mechanism of their pathogenicity.
Study context
- Population
- Children in Qatar with early-onset obesity (above the 95% percentile), age of onset below 10 years
- Participants
- 243 children
- Outcome
- Rare variants potentially associated with obesity (monogenic obesity variants)
Methodological detailstargeted gene panel of 52 obesity-related genes
- Targeted gene panel of 52 obesity-related genes
Main finding
As reported in the abstract
Probands with rare variants potentially associated with obesity
- Probands with rare variants in 15 candidate genes (LEP, LEPR, POMC, MC3R, MC4R, MRAP2, SH2B1, BDNF, NTRK2, DYRK1B, SIM1, GNAS, ADCY3, RAI1, BBS2)
- 36 of 243 (14.8%)
- Rare variants identified
- 30
- Novel variants
- 23
- Previously reported variants
- 7
- MC4R variants as cause of obesity in cohort
- 19%
- Patients with MC4R c.485C>T p.T162I variant (most frequent MC4R variant)
- 5
Observational data: associations, not effects.
Original publication
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar. J Clin Endocrinol Metab. Published 17 June 2023. doi:10.
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