title: Genetic studies on the ghrelin, growth hormone secretagogue receptor (GHSR) and ghrelin O-acyl transferase (GOAT) genes.
abstract: Ghrelin is a 28 amino acid peptide hormone that is produced both centrally and peripherally. Regulated by the ghrelin O-acyl transferase enzyme, ghrelin exerts its action through the growth hormone secretagogue receptor, and is implicated in a diverse range of physiological processes. These implications have placed the ghrelin signaling pathway at the center of a large number of candidate gene and genome-wide studies which aim to identify the genetic basis of human heterogeneity. In this review we summarize the available data on the genetic variability of ghrelin, its receptor and its regulatory enzyme, and their association with obesity, stature, type 2 diabetes, cardiovascular disease, eating disorders, and reward seeking behavior.
authors.affiliation: Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
authors.forename: Boyang
authors.initials: B
authors.lastname: Liu
authors.forename: Edwin A
authors.initials: EA
authors.lastname: Garcia
authors.forename: Márta
authors.initials: M
authors.lastname: Korbonits
mesh_terms: D000215:Acylation; D000217:Acyltransferases / Q000235:genetics* / Q000378:metabolism; D000818:Animals; D002318:Cardiovascular Diseases / Q000378:metabolism / Q000503:physiopathology; D003924:Diabetes Mellitus, Type 2 / Q000378:metabolism / Q000503:physiopathology; D001068:Feeding and Eating Disorders / Q000378:metabolism / Q000503:physiopathology; D005753:Gastric Mucosa / Q000378:metabolism*; D055106:Genome-Wide Association Study; D054439:Ghrelin / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008958:Models, Molecular; D009765:Obesity / Q000378:metabolism / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide; D011187:Posture / Q000502:physiology; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D011498:Protein Precursors / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D054440:Receptors, Ghrelin / Q000235:genetics* / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics*
chemical_list: D054439:Ghrelin; D020033:Protein Isoforms; D011498:Protein Precursors; D054440:Receptors, Ghrelin; D000217:Acyltransferases; C542776:MBOAT4 protein, human