Searchable abstracts of presentations at key conferences in endocrinology

ea0063gp121 | Diabetes: Late Complications | ECE2019

The A allele of the rs4636297 (G/A) polymorphism in the microRNA-126 is associated with protection for diabetic retinopathy

Crispim Daisy , Massignam Eloisa , Pellenz Felipe Mateus , Dieter Cristine

Background and aims: Diabetic retinopathy (DR) is an important chronic complication of diabetes mellitus (DM), and is the leading cause of new cases of blindness in adults. Although several single nucleotide polymorphisms (SNPs) have been associated with DR, more information is needed to unravel the genetics of this complex disease. MicroRNAs (miRNAs) are a class of small noncoding RNAs that regulate expression of at least 60% of all protein-coding genes. A number of miRNAs ha...

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...

ea0063oc11.4 | Diabetes 2 | ECE2019

MiR-30e-5p expression is downregulated in plasma and urine of type 1 diabetic patients with diabetic kidney disease

Crispim Daisy , Assmann Tais , Rodrigues Aline , Canani Luis Henrique , Souza Bianca de , Bauer Andrea Carla , Dieter Cristine

Background and aims: Diabetic kidney disease (DKD) is a common microvascular complication that affects 40% of patients with diabetes mellitus (DM). Emerging evidence suggests a role for microRNAs (miRNAs) in the development of DKD. In this context, miR-15a-5p and miR-30e-5p have been shown to regulate the expression of the uncoupling protein 2, a mitochondrial protein that decreases reactive oxygen species (ROS) formation by mitochondria. Since ROS overproduction is a key cont...