Target gene variations of PPAR isoforms may contribute to maturity-onset diabetes of the young (MODY) heterogeneity: A preliminary comparative study with type 2 diabetes
Authors' conclusion
The association of PPARA-L162V polymorphism with early-onset diabetes in both T2DM and MODY is a noteworthy finding. Considering these results, we suggested that genetic polymorphisms in PPAR isoforms may contribute to the clinical and metabolic heterogeneity of MODY.
Study context
- Population
- Patients with MODY (genetically confirmed or unconfirmed), T2D and healthy controls; genotyped for PPARA-L162V (rs1,800,206), PPARG-C161T (rs3,856,806), P12A (rs1,801,282) and PPARB/D +294 T/C (rs2,016,520)
- Participants
- 28 / 56 / 94 / 153
- Comparison
- MODY vs T2D vs healthy controls
- MODYn = 28
- MODYXn = 56
- T2DMn = 94
- Controlsn = 153reference
- Outcome
- PPAR genotype frequencies
Methodological detailspreliminary comparative case–control study, real-time PCR genotyping
- Preliminary comparative case–control study
- Real-time PCR genotyping
Main finding
As reported in the abstract
- MODY vs Controls: P = 0.002
- MODY vs Controls: P = 0.002
- MODY vs Controls: P = 0.012
- Total MODY vs T2DM: P = 0.005
- MODYX vs T2DM: P = 0.006
- T2DM vs MODY: P = 0.019
Further findings
PPARA-LL162 genotype and early-onset diabetes
- PPARA-LL162 associated with early-onset diabetes in total MODY
- P = 0.022
- PPARA-LL162 associated with early-onset diabetes in T2DM
- P < 0.05
Original publication
Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes. Diabetes Res Clin Pract. Published 17 November 2024. doi:10.
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