An international study led by a group of researchers from Montreal’s McGill University and Rotterdam’s Erasmus University Medical Centre, which included Maltese researchers Angela Xuereb and Melissa Formosa from the Department of Applied Biomedical Science, Faculty of Health Sciences at the University of Malta, identified a new rare variant lying close to the Engrailed homeobox 1 (EN1) gene, which has a fourfold increased impact on bone mineral density and fractures compared to all other previously reported variants to date.

The identified gene variant is relatively rare (one per cent) in the overall population. However, it is more frequent among those with the disease, predisposing carriers of the variant to an unusually high risk of osteoporosis.

This is the first time that the EN1 gene has been linked to osteoporosis in humans, making it a strong target for the development of drugs to treat the condition.

The genetic research involved the participation of more than 500,000 people, including those of the Malta Osteoporotic Fracture Study.

Osteoporosis is a silent bone disease in which bone mass significantly decreases, especially with age, giving rise to an increased fracture risk. The most common fracture sites are the hip, spine and wrist.

The findings of this study have been published in the online journal Nature.