Atlas of Osteoporosis by Eric S. Orwoll, Robert Marcus (auth.), Eric S. Orwoll MD
By Eric S. Orwoll, Robert Marcus (auth.), Eric S. Orwoll MD (eds.)
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Additional resources for Atlas of Osteoporosis
6). The mechanism by which the Sp I polymorphism predisposes to osteoporosis is yet to be fully defined, but preliminary data have shown evidence of differences in allele-specific transcription and collagen protein production . FIGURE 3-20. Quantitative trait loci (QTL) associated with bone density or size. To date, traditional linkage analysis has been successfully employed to discover major contributory genes in monogenic disorders (see Figure 3-15), but this mapping approach has limited ability to detect genes with more modest effects.
Elegant and complex mathematieal models have been advanced for polygenie-multifactorial disease, but these should not obscure the fact that each of the risk genes must express itself, like any other gene, by way of a specific biochemical product. FIGURE 3-4. Interaction of genetic and nongenetic factors on peak bone mass. The risk of osteoporosis depends in large degree on the achievement of peak bone mass, which is mostly determined by changes in bone size and volumetrie density. These developmental processes are controlled by complex and selective genetic, hormonal, and nutritional and other environmental factors, which tightly interact.
Those who are closer to the low end of the BMD distribution (T I), however, have more of the disease-causing genes and environmental factors and are therefore more likely to experience an osteoporotic fracture. As shown in this figure, both genetics and environment can increase the likelihood of osteoporosis. A, Distribution of BMD in the general population. B, Distribution of BMD in primary relatives of osteoporosis patients as an example of genetic factors. C, Distribution of BMD in calcium-deficient offspring of osteoporotic mothers as an illustration of an environmental factor, which increases the likelihood of falling below the BMD threshold (T2).