title: The genetics of osteoporosis.
abstract: BACKGROUND
  Osteoporosis is the commonest metabolic bone disease worldwide. The clinical hallmark of osteoporosis is low trauma fracture, with the most devastating being hip fracture, resulting in significant effects on both morbidity and mortality.
  
  
  METHODS
  Data for this review have been gathered from the published literature and from a range of web resources.
  
  
  RESULTS
  Genome-wide association studies in the field of osteoporosis have led to the identification of a number of loci associated with both bone mineral density and fracture risk and further increased our understanding of disease.
  
  
  RESULTS
  The early strategies for mapping osteoporosis disease genes reported only isolated associations, with replication in independent cohorts proving difficult. Neither candidate gene or linkage studies showed association at genome-wide level of significance.
  
  
  CONCLUSIONS
  The advent of massive parallel sequencing technologies has proved extremely successful in mapping monogenic diseases and thus leading to the utilization of this new technology in complex disease genetics.
  
  
  CONCLUSIONS
  The identification of novel genes and pathways will potentially lead to the identification of novel therapeutic options for patients with osteoporosis.
authors: Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
authors: Graeme R
authors: GR
authors: Clark
authors: Human Genetics Group, The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, 37 Kent Street, Woolloongabba QLD 4102, Australia Mayne Medical School, School of Medicine, Faculty of Medicine and Biomedical Sciences, The University of Queensland, 288 Herston Road, Herston, QLD, 4006, Australia Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Butterfield Road, Herston QLD 4029, Australia emma.duncan@uq.edu.au.
authors: Emma L
authors: EL
authors: Duncan
mesh_terms: D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D010024:Osteoporosis / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D058866:Osteoporotic Fractures / Q000453:epidemiology* / Q000235:genetics; D006113:United Kingdom / Q000453:epidemiology
keywords: gene mapping; genetics; genome-wide association studies; next-generation sequencing; osteoporosis