ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study investigated genetic factors influencing normal variation in TSH levels (range 0.4 to 4.0 mIU/L) through a large genome-wide association study (GWAS) involving 247,107 European ancestry individuals. It identified 260 independent sentinel variants, of which 158 are novel. These variants explained 22.8% of TSH variance within the adult reference interval, implicating 112 putative causal genes, 76 of which had not been previously linked to TSH regulation...

Brief Summary: This genome-wide association study (GWAS) meta-analysis of 271,040 European participants investigated the genetic determinants of thyroid function, including reference range serum TSH, FT4, free and total T3, proxies for metabolism (T3/FT4 ratio), as well as dichotomized high and low TSH levels. It identified 259 independent associations for TSH, 85 for FT4, and novel associations for thyroid hormone (TH) metabolism (T3/FT4 ratio). Genetic variants explained 14....

Brief Summary: This study investigated the genetic determinants of thyroid function in newborns and (pre)school children by analyzing the associations between single nucleotide polymorphisms (SNPs) previously identified in adults, and childhood TSH within the reference interval, and FT4 concentrations. It included three large population-based cohorts with data on genetic variants and thyroid function: Generation R (Netherlands), ALSPAC (UK), and BLTS (Australia), comprising 7,...

Brief Summary: This large systematic review and individual participant data (IPD) meta-analysis investigated the association between serum TSH and FT4 concentrations and the risk of cardiovascular disease (CVD) events (coronary heart disease, stroke, and heart failure) and all-cause mortality. It included data from 134,346 participants, with a median age of 59 years (range 18-106) and a median follow-up of 11.5 years. The results indicate a J-shaped association between FT4 lev...