By Eric S. Orwoll, Robert Marcus (auth.), Eric S. Orwoll MD (eds.)
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14. ) Bone Miner Res 2001,16:1962-1971. 15. ) Bone Miner Res 2002, 17: 1752-1760. 16. ) Endocrino/2000, 166:235-245. 17. ) C/in Densitom 1998,2:59-70. GENETICS OF OSTEOPOROSIS 18. : Transforming growth factor beta-I gene polymorphism and bone mineral density in japanese adolescents. Am} Med 1999, 106:477-479. 19. :A sequence variation: 7138deiC in the transforming growth factor-beta I gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women.
However, the risks to bone health are not equal for all activities. Female gymnasts have greater spinal and hip bone mass (after correcting for bone size) than do runners and nonathletes, despite a high incidence of menstrual dysfunction . By contrast, elite swimmers have no greater bone mass at these sites than do persons in the nonathletic control group . These observations underscore the importance of high-impact activity as a stimulus for bone formation (see Fig. 2-18). FIGURE 2-31.
Transmission disequilibrium testing Trios of parents and affected individuals are genotyped at a polymorphism in or near the candidate gene. This withinfamily design eliminates spurious association resu lts due to population stratification. Experimental crosses in animals Set up experimental crosses of animals using one strain that shows increased susceptibility to ehe disease under study and another that does not (for example. high and low bone mass). linkage studies and allele sharing studies can then be performed in the large number of progeny that result from the breeding program.