Osteoporosis is a common disease with a strong genetic component. In recent years, some progress has been made in understanding the genetic basis of osteoporosis. Genetic factors contribute to osteoporosis by influencing not only bone mineral density but also bone size, bone quality, and bone turnover. Meta-analysis has been used to define the role of several candidate genes in osteoporosis. Some quantitative trait loci that regulate bone mass identified by linkage studies in humans and experimental animals have been replicated in multiple populations. Genes that cause monogenic bone diseases also contribute to regulation of bone mass in the normal population. Genome-wide association studies and functional genomics approaches have recently begun to apply to genetic studies of osteoporosis. In the future, not only single gene but also the entire gene networks involved in osteoporosis and regulation of bone mass will systematically be discovered through integrative genomics.

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