Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes.

Autor: Yilmaz-Aydogan H; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: yilmazh@istanbul.edu.tr., Kanca-Demirci D; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye; Department of Molecular Biology and Genetics, Faculty of Arts and Sciences, Halic University, Istanbul, Türkiye. Electronic address: denizkanca@halic.edu.tr., Gul N; Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: nurdan.gul@istanbul.edu.tr., Aydogan C; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: cagatayaydogan@outlook.com., Poyrazoglu S; Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: sukran.poyrazoglu@istanbul.edu.tr., Tutuncu Y; Department of KUTTAM Immunology, Faculty of Medicine, Koc University, Istanbul, Türkiye. Electronic address: ytutuncu@ku.edu.tr., Malikova F; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: fidanmalikova1@ogr.iu.edu.tr., Ozturk O; Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: oguzozturk@istanbul.edu.tr., Satman I; Division of Endocrinology and Metabolism, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye. Electronic address: satman@istanbul.edu.tr.
Jazyk: angličtina
Zdroj: Diabetes research and clinical practice [Diabetes Res Clin Pract] 2024 Dec; Vol. 218, pp. 111932. Date of Electronic Publication: 2024 Nov 17.
DOI: 10.1016/j.diabres.2024.111932
Abstrakt: Aims: The objective of this study was to evaluate the associations of several genetic variants of peroxisome proliferator-activated receptors (PPARs) on clinical and laboratory parameters in patients with maturity-onset diabetes of the young (MODY), and possible contribution to heterogeneity of the disease.
Methods: The study groups comprised patients with MODY (genetically confirmed (n = 28), clinically relevant but genetically unconfirmed; MODYX (n = 56)), type 2 diabetes mellitus (T2DM; n = 94) and healthy controls (n = 153). PPARA-L162V-(rs1800206), PPARG-C161T-(rs3856806), P12A-(rs1801282), and PPARB/D + 294 T/C-(rs2016520) polymorphisms were genotyped by real-time-PCR.
Results: The results demonstrated that the frequencies of PPARA-LL162 (p = 0.002), PPARG-CC161 (p = 0.002), and PPARG-ProPro (p = 0.012) genotypes were significantly higher in the MODY group compared to the controls. Furthermore, total-MODY and MODYX groups had a higher frequency of PPARA-LL162 genotype than T2DM (p = 0.005 and p = 0.006, respectively). The frequency of the PPARB/D + 294 T allele was significantly higher in individuals with T2DM than in genetically-determined MODY group (p = 0.019). The PPARA-LL162 genotype was associated with early-onset diabetes in total-MODY (p = 0.022) and T2DM (p < 0.05) groups.
Conclusions: 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.
Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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