Genomic technologies have evolved rapidly contributing to the understanding of diseases. Genome-wide association studies (GWAS) and whole-exome sequencing have aided the identification of the genetic determinants of monogenic and complex conditions including osteoporosis and bone mass disorders. Overlap exists between the genes implicated in monogenic and complex forms of bone mass disorders, largely explained by the clustering of genes encoding factors in signaling pathways crucial for mesenchymal cell differentiation, skeletal development, and bone remodeling and metabolism. Numerous of the remaining discovered genes merit functional follow-up studies to elucidate their role in bone biology. The insight provided by genetic studies is serving the identification of biomarkers predictive of disease, redefining disease, response to treatment, and discovery of novel drug targets for skeletal disorders.

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Trends in Endocrinology and Metabolism
Department of Epidemiology

Rivadeneira Ramirez, F., & Mäkitie, O. (2016). Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments. Trends in Endocrinology and Metabolism (Vol. 27, pp. 262–281). doi:10.1016/j.tem.2016.03.006