title: Genetic strategies to understand physiological pathways regulating body weight.
abstract: Body weight is a highly heritable trait across species. In humans, genetic variation plays a major role in determining the inter-individual differences in susceptibility or resistance to environmental factors which influence energy intake and expenditure. In this review, I discuss how genetic studies have contributed to our understanding of the central pathways that govern energy homeostasis. The study of individuals harboring highly penetrant genetic variants that disrupt the leptin-melanocortin pathway has informed our understanding of the physiological pathways involved in mammalian energy homeostasis.
authors.affiliation: Addenbrooke's Hospital, Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, Cambridge, UK, isf20@cam.ac.uk.
authors.forename: Sadaf
authors.initials: S
authors.lastname: Farooqi
mesh_terms: D000818:Animals; D001835:Body Weight / Q000502:physiology*; D004734:Energy Metabolism; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D020738:Leptin / Q000235:genetics / Q000378:metabolism; D053858:Metabolic Networks and Pathways; D009765:Obesity / Q000235:genetics / Q000378:metabolism; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D020738:Leptin; D044105:Receptor, Melanocortin, Type 4