Genetics of osteoporosis from genome-wide association studies: advances and challenges

Nat Rev Genet. 2012 Jul 18;13(8):576-88. doi: 10.1038/nrg3228.

Abstract

Osteoporosis is among the most common and costly diseases and is increasing in prevalence owing to the ageing of our global population. Clinically defined largely through bone mineral density, osteoporosis and osteoporotic fractures have reasonably high heritabilities, prompting much effort to identify the genetic determinants of this disease. Genome-wide association studies have recently provided rapid insights into the allelic architecture of this condition, identifying 62 genome-wide-significant loci. Here, we review how these new loci provide an opportunity to explore how the genetics of osteoporosis can elucidate its pathophysiology, provide drug targets and allow for prediction of future fracture risk.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bone Density / genetics
  • Female
  • Fractures, Bone / genetics
  • Fractures, Bone / physiopathology
  • Genetic Linkage
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Meta-Analysis as Topic
  • Mice
  • Osteoporosis / genetics*
  • Osteoporosis / physiopathology