Endocrine Abstracts

Background: Numerous observational studies suggested that variation in thyroid function parameters even within the normal range associates with adverse, in particular non-thyroidal, health outcomes, but causality for most remains to be established.Methods: We combined individual level and summary level genetic prediction methods, i.e., polygenic scores and Mendelian randomization (MR), to systematically test for an association between liability to variat...

The study of humans carrying dominant negative mutations in PPAR gamma has contributed significantly to our understanding of its role in human physiology. To date, comparable studies of PPAR alpha have not been reported. Using a pooled approach, we undertook exon sequencing of PPARA in 11,848 adult participants of the Fenland study, a population-based cohort study with detailed metabolic phenotyping. Twenty-nine PPARA missense variants were detected (allelic ...