title: Genetics of osteoporosis.
abstract: Osteoporosis is a skeletal disease characterized by low bone mineral density (BMD) and microarchitectural deterioration of bone tissue, which increases susceptibility to fractures. BMD is a complex quantitative trait with normal distribution and seems to be genetically controlled (in 50-90% of the cases), according to studies on twins and families. Over the last 20 years, candidate gene approach and genome-wide association studies (GWAS) have identified single-nucleotide polymorphisms (SNPs) that are associated with low BMD, osteoporosis, and osteoporotic fractures. These SNPs have been mapped close to or within genes including those encoding nuclear receptors and WNT-β-catenin signaling proteins. Understanding the genetics of osteoporosis will help identify novel candidates for diagnostic and therapeutic targets.
authors.affiliation: Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Urano
authors.affiliation: Department of Geriatric Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Department of Anti-Aging Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan; Division of Gene Regulation and Signal Transduction, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address: INOUE-GER@h.u-tokyo.ac.jp.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Inoue
mesh_terms: D015519:Bone Density / Q000235:genetics; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D010024:Osteoporosis / Q000235:genetics* / Q000628:therapy; D058866:Osteoporotic Fractures / Q000000981:diagnostic imaging / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D051153:Wnt Proteins / Q000235:genetics
chemical_list: D018160:Receptors, Cytoplasmic and Nuclear; D051153:Wnt Proteins; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Bone mineral density (BMD); Genome-wide association study (GWAS); Osteoporosis; Single nucleotide polymorphism (SNP); WNT-β-catenin signaling