Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes
Authors' conclusion
P/LP, total loss-of-function DYRK1B variants cause monogenic obesity associated with type 2 diabetes. This study underscores the significance of conducting functional assessments in order to accurately ascertain the tangible effects of P/LP DYRK1B variants.
Study context
- Population
- Participants of a case-control study for obesity and T2Dcase-control study
- Participants
- 9,353 participants
- Comparison
- Carriers of P/LP and P/LP-null DYRK1B variants vs non-carriers
- Outcome
- BMI and obesity risk
Methodological detailsgenetic sequencing, in vitro functional assessment, ACMG pathogenicity criteria, adjusted mixed-effects score tests
- Genetic sequencing
- In vitro functional assessment
- ACMG pathogenicity criteria
- Adjusted mixed-effects score tests
Main finding
As reported in the abstract
P/LP-nullOR for obesity (95% CI)
P/LP-null
7.9(1.2–155)
- ± 3.2
- effect on BMI 8.0
Observational data: associations, not effects.
Further findings
Fasting glucose and T2D risk
| OR for T2D (95% CI) | ||
|---|---|---|
| P/LP-null | 4.8 (0.85–37) | |
| 0.050.21520OR for T2D (log scale) |
| Outcome | Effect on fasting glucose |
|---|---|
| Fasting glucose and T2D riskP/LP-null · ± 1.0 | 2.9 |
Fasting glucose and T2D risk
- P/LP variants had no effect on glucose homeostasis
Original publication
Pathogenic, Total Loss-of-Function DYRK1B Variants Cause Monogenic Obesity Associated With Type 2 Diabetes. Diabetes Care. Published 3 January 2024. doi:10.
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