The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people’s health. Polygenic (or common) obesity and rare, severe, early-onset …

Single nucleotide polymorphisms (SNPs) that cluster in the first intron of fat mass and obesity
associated (FTO) gene are associated obesity traits in genome-wide association studies. …

Over the past 20 years, genetic studies have illuminated critical pathways in the hypothalamus
and brainstem mediating energy homeostasis, such as the melanocortin, leptin, 5-…

Background Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form
of obesity. However, the clinical spectrum and mode of inheritance have not been defined, …

Variants in the FTO (fat mass and obesity associated) gene are associated with increased
body mass index in humans. Here, we show by bioinformatics analysis that FTO shares …

Fig. 1 A frameshift mutation in MC4R is associated with dominantly inherited obesity. a, Half-filled
symbols indicate the heterozygote state of the two obese subjects in this pedigree. b, …

Over 20 severely obese subjects in 11 independent kindreds have been reported to have
pathogenic heterozygous mutations in the gene encoding the melanocortin 4 receptor (MC4R)…

An 8-year-old male with a complex developmental syndrome and severe obesity was
heterozygous for a de novo missense mutation resulting in a Y722C substitution in the …

The neurotrophin brain-derived neurotrophic factor (BDNF) inhibits food intake, and rodent
models of BDNF disruption all exhibit increased food intake and obesity, as well as …

At least 5% of individuals with hypertension have adrenal aldosterone-producing adenomas
(APAs). Gain-of-function mutations in KCNJ5 and apparent loss-of-function mutations in …