Gene responsible for fracture risk identified

An international team of researchers has identified a gene responsible for bone mineral density and fracture risk.

The findings could lead to personalised treatment for osteoporosis - a disease that weakens bones, making them brittle and susceptible to fracture - in older adults.

"Our study explores the hereditary aspect of osteoporosis by investigating the role our genes play in determining bone mineral density and who is at risk of fracture due to low bone density," explained senior author Douglas Kiel, professor of medicine at Harvard Medical School in Boston, US.

Previous research has found risk factors such as age, gender, ethnicity, and family history contribute to the development of osteoporosis.

"Understanding the genomics underlying skeletal fragility (osteoporosis) may lead to preventative interventions that ultimately reduce fractures as we age," Kiel noted.

Conducting entire genome sequencing of nearly 3,000 people and looking at genetic data from over half-a-million people, the researchers found that a gene involved at the earliest stages of human development, the engrailed homeobox-1 gene, plays a central role in regulating bone density. 

This is the first time that researchers have connected the gene's product, the protein EN1, to bone biology in adults, the study said.

"Our findings enhance understanding of the genetics underlying the development of osteoporosis,” Kiel said.

"Ideally, genomic research will one day lead to more personalised interventions (precision medicine) that, in this case, will reduce bone loss and prevent fractures in older adults," he pointed out.

The study was published in the journal Nature.