Endocrine Abstracts

Thyroid hormones play a key role in cellular growth, development, and metabolism, and are known regulators of gene expression through genomic and non-genomic processes including DNA methylation. Using eight cohorts from the ThyroidOmics-Consortium and a standardized meta-analysis quality control pipeline, we conducted an epigenome-wide association study between blood-based leucocyte DNA methylation sites and thyroid hormones (TSH, free T3 and free T4) in up to 7,073 participan...

Background: Prospective studies showed that low serum testosterone concentrations are associated with various cardiometabolic risk factors and mortality. But the causal nature of these associations is controversial.Methods: We studied 1882 men aged 20–79 years with serum testosterone concentrations and genotyping data from the longitudinal population-based Study of Health in Pomerania.Testosterone concentrations were cross-sec...

Introduction: In the last decade, it has become clear that not only overt but also subclinical hypo- and hyperthyroidism are associated with several adverse clinical outcomes, including atrial fibrillation, coronary heart disease, stroke and mortality. More recently, various studies have suggested that even small differences in thyroid function within the reference range are associated with clinical consequences. Genetic factors are responsible for up to 58-71% of the variatio...

Background: MCT8 deficiency is caused by loss-of-function (LoF) mutations in thyroid hormone (TH) transporter MCT8. Patients have developmental delay and abnormal thyroid function tests (TFTs). The large phenotypic variability is not understood. Moreover, phenotypes arising from LoF mutations could be employed to enhance understanding of physiology in the general population. Also, computational disease variant classifiers have poor predictive power to ascertain impact of MCT8 ...