Genetic Determinants Involved in the Osteoporosis Pathophysiology

Osteoporosis is a chronic disease characterized by decreased bone mass and distorted microarchitecture that leads to increased bone fragility making an individual prone to fractures. It is one of the most widely affected diseases worldwide that has the potential to cause serious morbidity, mortality and cost implications. It is a multifactorial disease that is influenced by the interaction between genetic, hormonal, nutritional and environmental factors. As it is a polygenic disorder, myriad genes influence the disease condition to a varied extent. The identification of genes or loci that effects the development of the disease will help not only in individualizing the prognosis, treatment and prevention of fractures but also in discovering novel therapeutic agents. The genetic association studies on osteoporosis have reported conflicting results. Well designed and efficiently conducted studies with enough power to detect variations in the interaction between various contributing factors of the disease in the homogenous population are needed to establish conclusive genotypic associations with the disease. The present review briefly summarizes the data published on the genes affecting osteoporosis development.