Osteoporosis, the most common age-related bone disease, results in a decrease in the strength of the bone that leaves the affected individual more susceptible to fractures. According to the National Institute of Health, 10 million Americans suffer from the disease and another 34 million have low bone mass, placing them at increased risk for the disease.

Although osteoporosis occurs in both men and women, it begins earlier and progresses more rapidly in women after menopause. Osteoporosis can lead to both physical and financial consequences. Hip and vertebral fractures, which are commonly associated with osteoporosis, have a profound impact on quality of life.

A genetic risk assessment test could identify women at elevated risk for developing osteoporosis-related vertebral fracture comparatively early in the course of the disease and allow these women and their physicians to pursue risk reduction practices. This would enable nutritional or therapeutic intervention at an early stage, so that bone loss and fractures are minimized or prevented.

We have conducted research projects with major osteoporosis centers. Results of these studies have indicated that a number of small variations in the IL-1 gene cluster, referred to as polymorphisms, are associated with a more rapid rate of bone loss and an increased risk of vertebral fracture in post-menopausal Caucasian women.

We have developed an osteoporosis risk assessment test that combines the IL-1 Single Nucleotide Polymorphisms (SNPs) with SNPs in other genes known to be associated with bone loss to form a test panel. This test panel has been evaluated in one of the largest clinical databases of fractures caused by osteoporosis, the Study of Osteoporotic Fractures (SOF), directed out of the University of California at San Francisco.