The genetics of obesity: from discovery to biology
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 …
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts
Penetrance is the probability that an individual with a pathogenic genetic variant develops a
specific disease. Knowing the penetrance of variants for monogenic disorders is important …
specific disease. Knowing the penetrance of variants for monogenic disorders is important …
MC3R links nutritional state to childhood growth and the timing of puberty
The state of somatic energy stores in metazoans is communicated to the brain, which
regulates key aspects of behaviour, growth, nutrient partitioning and development. The …
regulates key aspects of behaviour, growth, nutrient partitioning and development. The …
Human loss-of-function variants in the serotonin 2C receptor associated with obesity and maladaptive behavior
Serotonin reuptake inhibitors and receptor agonists are used to treat obesity, anxiety and
depression. Here we studied the role of the serotonin 2C receptor (5-HT2CR) in weight …
depression. Here we studied the role of the serotonin 2C receptor (5-HT2CR) in weight …
The melanocortin action is biased toward protection from weight loss in mice
H Li, Y Xu, Y Jiang, Z Jiang, J Otiz-Guzman… - Nature …, 2023 - nature.com
The melanocortin action is well perceived for its ability to regulate body weight
bidirectionally with its gain of function reducing body weight and loss of function promoting …
bidirectionally with its gain of function reducing body weight and loss of function promoting …
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity
E Kempf, K Landgraf, R Stein, M Hanschkow… - Nature …, 2022 - nature.com
Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein)
gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme …
gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme …
Effects of heterozygous variants in the leptin-melanocortin pathway on Roux-en-Y gastric bypass outcomes: a 15-Year case–control study
Introduction Heterozygous variants in the leptin-melanocortin pathway are associated with
obesity. However, their effect on the long-term outcomes after Roux-en-Y gastric bypass …
obesity. However, their effect on the long-term outcomes after Roux-en-Y gastric bypass …
[PDF][PDF] Current treatments for patients with genetic obesity
N Faccioli, C Poitou, K Clément… - Journal of clinical …, 2023 - jag.journalagent.com
Obesity derives from impaired central control of body weight, implying interaction between
environment and an individual genetic predisposition. Genetic obesities, including …
environment and an individual genetic predisposition. Genetic obesities, including …
The promise of new anti-obesity therapies arising from knowledge of genetic obesity traits
Obesity is a multifactorial and complex disease that often manifests in early childhood with a
lifelong burden. Polygenic and monogenic obesity are driven by the interaction between …
lifelong burden. Polygenic and monogenic obesity are driven by the interaction between …
Damaging mutations in liver X receptor-α are hepatotoxic and implicate cholesterol sensing in liver health
Liver X receptor-α (LXRα) regulates cellular cholesterol abundance and potently activates
hepatic lipogenesis. Here we show that at least 1 in 450 people in the UK Biobank carry …
hepatic lipogenesis. Here we show that at least 1 in 450 people in the UK Biobank carry …