Genetic epidemiological approaches to the search for osteoporosis genes

Important progress has been made in the identification of specific environm ental factors and estimation of hereditary components in bone density, quan titative ultrasound (QUS), and bone turnover indices. By contrast, the sear ch for specific genes that regulate bone mass has progressed rather slowly, and the results are more difficult to interpret and reproduce. This articl e reviews the genetics of osteoporosis and problems plaguing genetic resear ch. It is argued that the search for genes involved in the expression of os teoporotic phenotypes should be based on linkage studies in relatively homo geneous populations. Strategies for increasing the power of studies, such a s making use of information from extended pedigrees and multivariate analys is, are discussed, With the advent of a comprehensive human genetic linkage map, a complete identification of genes for osteoporosis appears feasible, Understanding the genetic mechanisms and their interactions with environme ntal factors should allow more focused and cost-effective osteoporosis prev ention and treatment strategies.