Genetic research studies are now being conducted to try to identify the genetic risk factors associated with osteoporosis. Any gene involved in bone formation or metabolism is an obvious candidate for which a variation may result in an increased risk to develop osteoporosis.

• The genes COL 1A1 and COL 1A2, located on chromosome 17, play a role in the formation of collagen, an important constituent of bone.
• Vitamin D plays an important role in bone formation. Malfunction of the receptor for this vitamin results in low bone density at an early age.