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Free Content Contribution of Gender-Specific Genetic Factors to Osteoporosis Risk

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Summary

Common diseases result from the complex relationship between genetic and environmental factors. The aim of this review is to provide perspective for a conceptual framework aimed at studying the interplay of gender-specific genetic and environmental factors in the etiology of complex disease, using osteoporosis as an example.

In recent years, gender differences in the heritability of the osteoporosis-related phenotypes have been reported and sex-specific quantitative-trait loci were discovered by linkage studies in humans and mice. Results of numerous allelic association studies also differed by gender. In most cases, it was not clear whether or not this phenomenon should be attributed to the effect of sex-chromosomes, sex hormones, or other intrinsic or extrinsic differences between the genders, such as the level of bioavailable estrogen and of physical activity. We conclude that there is need to consider gender-specific genetic and environmental factors in the planning of future association studies on the etiology of osteoporosis and other complex diseases prevalent in the general population.
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Keywords: Gender; Gene-Environment Interaction; Genetic Polymorphisms; Heritability; Osteoporosis

Document Type: Research Article

Affiliations: Service of Bone Diseases, Department of Rehabilitation and Geriatrics, WHO Collaborating Center for Osteoporosis Prevention, Geneva University Hospital, 1211 Geneva 14, Switzerland

Publication date: September 1, 2008

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