title: Recent genetic discoveries in osteoporosis, sarcopenia and obesity.
abstract: Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD) and an increased susceptibility to fractures. Evidence from genetic studies indicates that BMD, a complex quantitative trait with a normal distribution, is genetically controlled. Genome-wide association studies (GWAS) as well as studies using candidate gene approaches have identified single-nucleotide polymorphisms (SNPs) that are associated with BMD, osteoporosis and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding WNT/β-catenin signaling proteins. Understanding the genetics of osteoporosis will help to identify novel candidates for diagnostic and therapeutic targets. Genetic factors are also important for the development of sarcopenia, which is characterized by a loss of lean body mass, and obesity, which is characterized by high fat mass. Hence, in this review, we discuss the genetic factors, identified by genetic studies, which regulate the body components related to osteoporosis, sarcopenia, and obesity.
authors: Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
authors: Tomohiko
authors: T
authors: Urano
authors: Satoshi
authors: S
authors: Inoue
mesh_terms: D000818:Animals; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease; D006801:Humans; D060492:Low Density Lipoprotein Receptor-Related Protein-5 / Q000235:genetics / Q000378:metabolism; D009765:Obesity / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D010024:Osteoporosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D020641:Polymorphism, Single Nucleotide; D011960:Receptors, Estrogen / Q000235:genetics / Q000378:metabolism; D055948:Sarcopenia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D051153:Wnt Proteins / Q000235:genetics / Q000378:metabolism; D060449:Wnt Signaling Pathway; D051176:beta Catenin / Q000235:genetics / Q000378:metabolism
chemical_list: C495270:CTNNB1 protein, human; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D011960:Receptors, Estrogen; D051153:Wnt Proteins; D051176:beta Catenin