how genomics has informed our understanding of the pathogenesis of osteoporosis基因组学是如何通知我们对骨质疏松症的发病机制的理解.pdfVIP

Review How genomics has informed our understanding of the pathogenesis of osteoporosis Mark L Johnson, Nuria Lara and Mohamed A Kamel Address: Department of Oral Biology, University of Missouri - Kansas City School of Dentistry, 650 East 25th Street, Kansas City, MO 64108, USA. Correspondence: Mark L Johnson. E-mail: johnsonmark@ density single nucleotide polymorphism (SNP) maps, high- Abstract throughput sequencing along with other genomic Osteoporosis is a skeletal disorder characterized by compro- mised bone strength that predisposes a person to an increased technologies, advances in statistical approaches for the risk of fracture. Osteoporosis is a complex trait that involves analysis of the derived genetic information, and the ability multiple genes, environmental factors, and gene-gene and to generate transgenic and knockout mouse models to gene-environment interactions. Twin and family studies have assess the contribution of individual genes to bone mass indicated that between 25% and 85% of the variation in bone regulation have propelled research in the field at an mass and other skeletal phenotypes is heritable, but our know- incredible pace. ledge of the underlying genes is limited. Bone mineral density is the most common assessment for diagnosing osteoporosis and is the most often used quantitative value in the design of genetic As in all genetic studies, the choice of phenotype ultimately studies. In recent years, our understanding of the pathophysio-