Osteoporosis causes more than 8.9 million fractures annually worldwide with the lifetime risk for a wrist, hip, or vertebral fracture estimated to be in the order of 30-40 in developed countries 1. Osteoporosis is not only a major cause of fractures but also ranks high among diseases causing people to become bedridden with high morbidity, mortality, and costs to the individual and the society. Osteoporosis has been operationally defined on the basis of the bone mineral density (BMD) assessment. Nevertheless, the BMD measurement alone is not optimal for the detection of individuals at high risk of fracture. Even though the risk of fracture is very high when BMD is low (high specificity), risk is not negligible when BMD is normal (low sensitivity). This has to do with the multifactorial etiology of osteoporosis and its associated fractures. Multiple underlying factors influence the risk of disease, including age, sex, menopausal status, diet, physical activity, smoking, coexisting diseases, and pharmacologic treatments. Family history of fracture is another strong confirmed risk factor which has brought great expectation of what the assessment of genetic factors can bring to understand the underlying biology, improve risk prediction, and develop novel disease interventions (treatment).
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