Hulya Yilmaz-Aydogan , Deniz Kanca-Demirci , Nurdan Gul , Cagatay Aydogan , Sukran Poyrazoglu , Yıldız Tutuncu , Fidan Malikova , Oguz Ozturk , Ilhan Satman
{"title":"PPAR 同工型的靶基因变异可能导致 MODY 的异质性：与 2 型糖尿病的初步比较研究。","authors":"Hulya Yilmaz-Aydogan , Deniz Kanca-Demirci , Nurdan Gul , Cagatay Aydogan , Sukran Poyrazoglu , Yıldız Tutuncu , Fidan Malikova , Oguz Ozturk , Ilhan Satman","doi":"10.1016/j.diabres.2024.111932","DOIUrl":null,"url":null,"abstract":"<div><h3>Aims</h3><div>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.</div></div><div><h3>Methods</h3><div>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). <em>PPARA</em>-L162V-(rs1800206), <em>PPARG-</em>C161T-(rs3856806), P12A-(rs1801282), and <em>PPARB/D</em> + 294 T/C-(rs2016520) polymorphisms were genotyped by real-time-PCR.</div></div><div><h3>Results</h3><div>The results demonstrated that the frequencies of <em>PPARA</em>-LL162 (p = 0.002), <em>PPARG-</em>CC161 (p = 0.002), and <em>PPARG-</em>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 <em>PPARA</em>-LL162 genotype than T2DM (p = 0.005 and p = 0.006, respectively). The frequency of the <em>PPARB/D</em> + 294 T allele was significantly higher in individuals with T2DM than in genetically-determined MODY group (p = 0.019). The <em>PPARA</em>-LL162 genotype was associated with early-onset diabetes in total-MODY (p = 0.022) and T2DM (p < 0.05) groups.</div></div><div><h3>Conclusions</h3><div>The association of <em>PPARA</em>-L162V polymorphism with early-onset diabetes in both T2DM and MODY is a noteworthy finding. Considering these results, we suggested that genetic polymorphisms in <em>PPAR</em> isoforms may contribute to the clinical and metabolic heterogeneity of MODY.</div></div>","PeriodicalId":11249,"journal":{"name":"Diabetes research and clinical practice","volume":"218 ","pages":"Article 111932"},"PeriodicalIF":6.1000,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes\",\"authors\":\"Hulya Yilmaz-Aydogan , Deniz Kanca-Demirci , Nurdan Gul , Cagatay Aydogan , Sukran Poyrazoglu , Yıldız Tutuncu , Fidan Malikova , Oguz Ozturk , Ilhan Satman\",\"doi\":\"10.1016/j.diabres.2024.111932\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Aims</h3><div>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.</div></div><div><h3>Methods</h3><div>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). <em>PPARA</em>-L162V-(rs1800206), <em>PPARG-</em>C161T-(rs3856806), P12A-(rs1801282), and <em>PPARB/D</em> + 294 T/C-(rs2016520) polymorphisms were genotyped by real-time-PCR.</div></div><div><h3>Results</h3><div>The results demonstrated that the frequencies of <em>PPARA</em>-LL162 (p = 0.002), <em>PPARG-</em>CC161 (p = 0.002), and <em>PPARG-</em>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 <em>PPARA</em>-LL162 genotype than T2DM (p = 0.005 and p = 0.006, respectively). The frequency of the <em>PPARB/D</em> + 294 T allele was significantly higher in individuals with T2DM than in genetically-determined MODY group (p = 0.019). The <em>PPARA</em>-LL162 genotype was associated with early-onset diabetes in total-MODY (p = 0.022) and T2DM (p < 0.05) groups.</div></div><div><h3>Conclusions</h3><div>The association of <em>PPARA</em>-L162V polymorphism with early-onset diabetes in both T2DM and MODY is a noteworthy finding. Considering these results, we suggested that genetic polymorphisms in <em>PPAR</em> isoforms may contribute to the clinical and metabolic heterogeneity of MODY.</div></div>\",\"PeriodicalId\":11249,\"journal\":{\"name\":\"Diabetes research and clinical practice\",\"volume\":\"218 \",\"pages\":\"Article 111932\"},\"PeriodicalIF\":6.1000,\"publicationDate\":\"2024-11-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diabetes research and clinical practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0168822724008428\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diabetes research and clinical practice","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0168822724008428","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes
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.
期刊介绍：
Diabetes Research and Clinical Practice is an international journal for health-care providers and clinically oriented researchers that publishes high-quality original research articles and expert reviews in diabetes and related areas. The role of the journal is to provide a venue for dissemination of knowledge and discussion of topics related to diabetes clinical research and patient care. Topics of focus include translational science, genetics, immunology, nutrition, psychosocial research, epidemiology, prevention, socio-economic research, complications, new treatments, technologies and therapy.
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