ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study examined the role of the melanocortin 3 receptor ( MC3R ) gene in regulating body weight, height, and puberty timing. It found an association between various non-synonymous variants (NSVs) in the MC3R gene with energy homeostasis and puberty.Melanocortin 3 receptor (MC3R) is a G protein-coupled receptor involved in the hypothalamic system that regulates energy homeostasis, growth and puberty (1,2). Recent studi...

To read the full abstract: This genome-wide association study (GWAS) of 16,992 cases of anorexia nervosa and 55 525 controls identified 8 significant loci. The findings show that the genetic architecture of anorexia nervosa mirrors its clinical features, showing significant genetic correlations with psychiatric disorders (obsessive-compulsive disorder, depression, anxiety, and schizophrenia), physical activity, and metabolic (including glycemic), lipid and anthropometric trait...