Gene-Based Diagnostic Test for Osteoporosis

A new diagnostic test for osteoporosis is based on the type 1 collagen gene. Several studies have demonstrated that the risk of fractures due to osteoporosis is greater in individuals with an unfavorable mutation of the COL1A1 gene, which appears to affect bone architecture and density.

The COL1A1 polymorphism and association with osteoporotic fracture was originally discovered by researchers from the University of Aberdeen (Scotland) and later validated by Gemini Genomics (Cambridge, UK) and its collaborators. The polymorphism is estimated to be present in 15-20% of the population. The new test was developed and launched by U.K. company Axis-Shield plc, a development partner of Gemini, which owns the patent and exclusive commercialization rights.

Bone mineral density (BMD) is usually measured using low dose x-rays. Women with low BMD have up to a five-fold increased risk of fracture compared to women with normal BMD, whereas women who also have the COL1A1 variation are up to five times more likely to suffer a fracture than those with low BMD. A woman with both low BMD and the COL1A1 variation therefore has up to a 25-fold increased risk of fracture compared to a woman with both normal BMD and normal genotype.

"This new gene-based diagnostic has the potential to become an important tool in identifying patients with a predisposition to osteoporosis and their subsequent clinical management,” said Paul Kelly, M.D., president and CEO of Gemini Genomics.



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