Researchers identify a genetic cause of osteoporosis

An international team that includes researchers at Sahlgrenska Academy has found a new genetic cause of osteoporosis. The findings set the stage for eventually curing the disease.

Osteoporosis is a common condition that leads to fractures with half of all women experiencing a fracture during their lifetime.

The discovery of a genetic variant has permitted researchers to link a particular gene to bone density and fractures. Follow-up studies have described the mechanisms by which the protein coded by the gene affects bone density.

Sahlgrenska Academy Professor Claes Ohlsson, who participated in the study, says, “Given that the EN1 gene has never been associated with osteoporosis before, we have a brand new pathway for developing drugs that can inhibit the condition.”

Directed by Canadian scientists, the international study initially examined highly detailed genetic data from 10,000 individuals and subsequently replicated the EN1 discovery in 500,000 others. The inclusion of so many subjects allowed the researchers to establish correlations between rare genetic changes and pathological conditions.

 “The study is clear evidence that uncommon genetic variants can have a significant impact on widespread diseases,” Professor Ohlsson says. “We have discovered a new mechanism for regulating bone density and fractures.” Sahlgrenska Academy, University of Gothenburg