Clinical Review

Science, medicine, and the future: osteoporosis

BMJ 1997; 315 doi: (Published 23 August 1997) Cite this as: BMJ 1997;315:469
  1. Stuart H Ralston (, professor of medicinea
  1. a University of Aberdeen Medical School, Foresterhill, Aberdeen AB25 2ZD


    Fractures related to osteoporosis occur in about 150 000 people annually in the United Kingdom and account for over £750m in healthcare costs. As the age of the population increases, osteoporotic fractures will become even more common unless we can develop better methods of identifying people who are at high risk of the disease before fractures have occurred, or have developed more effective ways of reversing bone loss in patients with established osteoporosis.

    In this article I review the importance of genetic factors in the pathogenesis of osteoporosis and discuss the molecular genetic approaches that are being used to define the genes involved. I also describe some recent advances in understanding the cellular and molecular basis of bone remodelling and suggest how this knowledge might impact on the development of new drug treatments for osteoporosis.

    Genetics and osteoporosis

    Osteoporosis is a complex disease that is influenced by environmental factors such as diet, smoking, alcohol intake, and exercise, but genetic factors are now recognised to be one of the most important determinants of bone mass and risk of osteoporotic fracture. This knowledge comes from studies of bone mineral density in twins and in families, which have suggested that 70-85% of the inter-individual variance in bone mass is genetically determined. Although the genes that regulate bone mass are incompletely defined, current data suggest that several genes, each with modest effects on bone mass, are involved, rather than one or two genes with major effects; however, the exact number of genes involved and their relative effects remain unclear.1

    Approaches to defining genetic contribution to osteoporosis

    Two approaches are usually used to dissect out the genetic contribution to complex diseases such as osteoporosis.2 The first is to look for evidence of allele sharing on a genome-wide basis by means of polymorphic genetic markers in sib pairs (a “genome search”), and the second …

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