Endocrine Abstracts

Background and Aims: Type 1 diabetes mellitus (T1DM) is caused by an autoimmune destruction of pancreatic beta cells, which renders patients insulin-dependent for life. The disease arises from a complex interaction among several genetic and environmental factors. To date, single nucleotide polymorphisms (SNPs) in >50 genes have been associated with T1DM, with HLA class II SNPs having the greatest impact on disease susceptibility. Other loci have minor effects on T...

Background and Aim: Type 1 diabetes mellitus (T1DM) is an autoimmune disease resulting from the complex interaction among multiple genes, environmental factors and the immune system. Genome-wide association studies identified ERBB3 (Erb-b2 receptor tyrosine kinase 3) gene as a main susceptibility locus for T1DM. This gene encodes a member of the family of intracellular receptors of protein tyrosine kinases, which activates multiple signaling pathways including PI3K-Ak...

Background and Aims: The transcription factor Gli-similar 3 (GLIS3) plays a key role in the development and maintenance of pancreatic beta-cells as well as in the regulation of Insulin gene expression in adults. Accordingly, genome-wide association studies identified GLIS3 as a susceptibility locus for type 1 diabetes mellitus (T1DM) and glucose metabolism traits. Therefore, the aim of this study was to investigate the association of the rs7020673 (G/C) and r...

Background and aims: Type 1 diabetes mellitus (T1DM) results from a severe autoimmune destruction of pancreatic beta cells, which renders patients insulin-dependent for life. The triggering of autoimmunity against beta cells is caused by a complex interaction between environmental, genetic and epigenetic risk factors. Although significant progress has been made in elucidating the genetic factors associated with T1DM, the non-genetic components have remained poorly understood. ...