title: Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments.
abstract: Genomic technologies have evolved rapidly contributing to the understanding of diseases. Genome-wide association studies (GWAS) and whole-exome sequencing have aided the identification of the genetic determinants of monogenic and complex conditions including osteoporosis and bone mass disorders. Overlap exists between the genes implicated in monogenic and complex forms of bone mass disorders, largely explained by the clustering of genes encoding factors in signaling pathways crucial for mesenchymal cell differentiation, skeletal development, and bone remodeling and metabolism. Numerous of the remaining discovered genes merit functional follow-up studies to elucidate their role in bone biology. The insight provided by genetic studies is serving the identification of biomarkers predictive of disease, redefining disease, response to treatment, and discovery of novel drug targets for skeletal disorders.
authors.affiliation: Musculoskeletal Genomics, Health and Metabolism, Departments of Internal Medicine and Epidemiology, Erasmus University Medical Center, 3000CA Rotterdam, The Netherlands. Electronic address: f.rivadeneira@erasmusmc.nl.
authors.forename: Fernando
authors.initials: F
authors.lastname: Rivadeneira
authors.affiliation: Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden.
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
mesh_terms: D000818:Animals; D015519:Bone Density / Q000235:genetics / Q000502:physiology; D059472:Exome / Q000235:genetics; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D010024:Osteoporosis / Q000235:genetics* / Q000378:metabolism*
keywords: bone mass; genome-wide association; osteoporosis; pathways; whole-exome sequencing