ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

To read the full abstract: Cell 2019;177 (3):59–-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

To read the full abstract: Science 2019;365:eaat7693.These authors performed a genome-wide association study on 493 001 participants of European-ancestry from the USA, UK, and Sweden to identify genes associated with sexual orientation. They found multiple loci implicated in same-sex sexual behavior indicating that, like other behavioral traits, non-heterosexual behavior is polygenic.As many as 4% to 10% of US individuals ...

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...