Genetics of osteoporosis

Biochem Biophys Res Commun. 2014 Sep 19;452(2):287-93. doi: 10.1016/j.bbrc.2014.07.141. Epub 2014 Aug 16.

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.

Keywords: Bone mineral density (BMD); Genome-wide association study (GWAS); Osteoporosis; Single nucleotide polymorphism (SNP); WNT-β-catenin signaling.

Publication types

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

MeSH terms

  • Bone Density / genetics
  • Gene Expression Regulation
  • Genome-Wide Association Study
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Osteoporosis / genetics*
  • Osteoporosis / therapy
  • Osteoporotic Fractures / diagnostic imaging
  • Osteoporotic Fractures / genetics
  • Polymorphism, Single Nucleotide
  • Radiography
  • Receptors, Cytoplasmic and Nuclear / genetics
  • Wnt Proteins / genetics

Substances

  • Receptors, Cytoplasmic and Nuclear
  • Wnt Proteins
  • Methylenetetrahydrofolate Reductase (NADPH2)