Clinical Reviews in Bone and Mineral Metabolism

, Volume 8, Issue 2, pp 68–76

Osteoporosis as an Hereditary Disease

Original Paper

DOI: 10.1007/s12018-010-9073-3

Cite this article as:
Ralston, S.H. Clinic Rev Bone Miner Metab (2010) 8: 68. doi:10.1007/s12018-010-9073-3


Osteoporosis is a common disease with a strong genetic component characterized by reduced bone mass and increased risk of fragility fractures. Twin and family studies have shown that bone mineral density (BMD) and other determinants of fracture risk such as ultrasound properties of bone, skeletal geometry, and bone turnover have a significant heritable component. Osteoporotic fractures also have a genetic component but heritability reduces dramatically with increasing age. Many different genetic variants contribute to the regulation of these phenotypes; most are common variants of small effect size, but there is evidence that rare variants of large effect size also contribute in some individuals. Genome wide association studies have recently been successfully employed to identifying genes that predispose to osteoporosis, although some of these had already been identified through the study of rare bone diseases. Although there has been extensive progress in understanding the genetic basis of osteoporosis over the past 10 years, most of the genetic variants that regulate bone mass remained to be discovered.



Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Molecular Medicine CentreWestern General HospitalEdinburghUK