Genetics and Clinical Characteristics of PPARγ Variant-Induced Diabetes in a Chinese Han Population

• DOI: 10.3389/fendo.2021.677130
• Publication Date: 2021-10-26T06:35:20Z
• Authors: Siqian Gong; Xueyao Han; Meng Li; Xiaoling Cai; Wei Liu; Yingying Luo; Si-min Zhang; Lingli Zhou; Yumin Ma; Xiuting Huang; Yufeng Li; Xianghai Zhou; Yu Zhu; Qiuping Wang; Ling Chen; Qian Ren; Ping Zhang; Linong Ji
• Keywords: Adult; Male; 0301 basic medicine; China; lipodystrophy; prevalence; Exons; RC648-665; activation function 1 domain; Diseases of the endocrine glands. Clinical endocrinology; 3. Good health; PPAR gamma; 03 medical and health sciences; Endocrinology; Diabetes Mellitus, Type 2; Tyr95Cys; PPARG; Prevalence; Humans; Female; type 2 diabetes; Insulin Resistance

PPARγ variants cause lipodystrophy, insulin resistance, and diabetes. This study aimed to determine the relationship between genotypes phenotypes explore pathogenesis of diabetes beyond this relationship. PPARγ2 exons in 1,002 Chinese patients with early-onset type 2 (diagnosed before 40 years age) were sequenced. The functions evaluated by vitro assays. Additionally, a review literature was performed obtain all reported cases rare evaluate characteristics different functional domains. Six (0.6%) had variant-induced (PPARG-DM) group, including three p.Tyr95Cys variant activation function 1 domain (AF1), which five (83%) diabetic kidney disease (DKD). Functional experiments showed that suppresses 3T3-L1 preadipocyte differentiation. A total 64 damaging previously. Patients AF1 lower risk lipodystrophy higher rate obesity than those other domains, as confirmed identified study. prevalence PPARG-DM is similar Caucasian populations, DKD often observed these patients. milder clinical lack typical features Our findings emphasize importance screening such via genetic testing suggest thiazolidinediones might be good choice for