ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This multi-ancestry genetic analysis including ~800,000 women, identified 1,080 signals for age at menarche, explaining 11% of trait variance.Age at menarche is a highly polygenic trait which varies widely among individuals (4-5 years)1. Recent genome wide association studies, mostly conducted in subjects of European ancestry, have identified several hundred of loci corresponding to ~ 25% of the hereditability2-5....

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...