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.
Keywords: Genetics, osteoporosis, mutations, low bone mass, fracture risk, candidate genes.
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