Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp217 | Gestational and Type 1 Diabetes | ECE2019

The rs2304256 A allele in the TYK2 gene is associated with protection for type 1 diabetes mellitus in a Brazilian population

Crispim Daisy , Pellenz Felipe Mateus , Duarte Guilherme , Dieter Cristine , Souza Bianca de

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...

ea0049gp79 | Diabetes & complications 1 | ECE2017

The rs2292239 polymorphism in the ERBB3 gene is associated with risk for type 1 diabetes mellitus

Crispim Daisy , Dieter Cristine , Lemos Natalia , Assmann Tais , Duarte Guilherme , Dorfman Luiza , Bauer Andrea

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...

ea0049ep411 | Diabetes (to include epidemiology, pathophysiology) | ECE2017

GLIS3 rs7020673 and rs10758593 polymorphisms interact in the susceptibility for type 1 diabetes mellitus

Crispim Daisy , Duarte Guilherme , Assmann Tais , Dieter Cristine , de Souza Bianca , Canani Luis

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...

ea0063p196 | Diabetes, Obesity and Metabolism 1 | ECE2019

Type 1 diabetic patients with more than five years of disease have increased global methylation levels

Duarte Guilherme CK , Assmann Tais S , Alves Melissa D , Rossoni Elis A , Correa Nathalia RF , Bauer Andrea C , Bossardi Ramon , Crispim Daisy

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. ...