Endocrine Abstracts

Understanding the genetic etiology of Graves’ disease (GD) and Graves’ orbitopathy (GO) is recognized as an urgent priority. Since peroxisome proliferator-activated receptors α (PPARα) exhibit anti-inflammatory and immunomodulatory activity, and are required for the control of the adipose inflammation process their role in the GD and GO pathogenesis has been proposed. Abnormal expression and/or function of PPARα could suppress the inflammatory response...

Introduction: The transcription factor 7-like 2 gene (TCF7L2) has the strongest effect on the risk of type 2 diabetes but the mechanism for this is not fully understood. Some genetic variants are associated with pancreatic B-cell function and some single nucleotide polymorphisms show a significant correlation with obesity. The aim of the study was to analyze whether TCF7L2 variants may influence body weight and body fat content, as well as postprandial glucose metabolism in no...

The exact mechanism of the development of T2DM is still unclear, however, it is known that important role is played by both environmental and genetic factors. In this study we focused on describing the interactions between environmental and genetic factors and answering the question whether physical activity can modify the impact of the genes on the incidence of T2DM. We recruited 921 subjects (median age: 38 years; 49.7% man; mean BMI: 28.1) from the cohort 1000 Polish Longit...

The risk of type 2 diabetes mellitus (T2DM) development is related to BMI, therefore this disease mainly occurs among overweight (OW) and obese (OB) people. However lean (L) individuals may also suffer from T2DM. The evolution of T2DM is a multistep process and starts with insulin resistance (IR), which may evolve into pre-diabetic state i.e.: impaired fasting glucose (IFG) and/or impaired glucose tolerance (IGT). In up to 70% of patients pre-diabetic state evolves into T2DM. ...

The clinical presentation of Graves’ disease (GD) depends on the combination of environmental and genetic factors. The CTLA-4 and CD28, ICOS genes encoding negative and positive regulator of the T-lymphocyte immune response, are candidate genes for conferring susceptibility to thyroid autoimmunity.Polymorphisms in genes: CTLA-4: g.319C>T (rs5742909), c.49A>G (rs231775), g.*642AT(8_33), CT60 (g.*6230G>A, rs3087243), Jo31...

Introduction: The genome-wide association studies have recently expanded the number of genetic susceptibility loci for type 2 diabetes and obesity. Transcription factor 7-like 2 (TCF7L2) gene seems to be one of the most predictive identifiable factors promoting T2DM development. It has been suggested that TCF7L2 influences pancreatic β-cell function butthe effect of genetic variants of TCF7L2 on metabolic syndrome development is not well characterized among subje...