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Genetic Factors in Osteoporosis

What are the Implications for Prevention and Treatment?

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Summary

Osteoporosis is a common disease that affects 1 in 3 women. Family and twin studies have demonstrated that there is a strong genetic component to this condition. Potential candidate genes examined for their regulatory effect on bone mass include those for collagen type I, estrogen and vitamin D receptors, and various cytokines and growth factors. To date, most work has focused on the vitamin D receptor (VDR) gene, and experience with this locus will probably act as a model for many future studies.

There is increasing evidence, from population studies that have examined the relationship between VDR genotype and bone mineral density, of genetic heterogeneity and gene-environment interactions. Response to therapeutic agents may also be affected by an individual’s underlying genotype, partly explaining the range of responses that are commonly observed in clinical practice. Knowledge of a person’s genotype could, therefore, allow current therapies to be targeted to those most likely to benefit, with a possible reduction in adverse effects. Large-scale genomic studies of osteoporosis may also identify novel genes, and this may lead to both a better understanding of disease pathophysiology and to the discovery of potential targets for drug development.

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Authors and Affiliations

  1. Twin & Osteoporosis Research Unit, St Thomas’ Hospital, Lambeth Palace Road, London, SE1 7EH, England

    Richard W. Keen

  2. St Vincent’s Clinic, Darlinghurst, Sydney, New South Wales, Australia

    Paul J. Kelly

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  1. Richard W. Keen
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  2. Paul J. Kelly
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Correspondence to Richard W. Keen.

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Keen, R.W., Kelly, P.J. Genetic Factors in Osteoporosis. Drugs & Aging 11, 333–337 (1997). https://doi.org/10.2165/00002512-199711050-00001

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