Genetics and bone mineral density

Investigating bone mineral density in athletes and understanding which genetic variants may be associated with this phenotype.

Investigating bone density in professional athletes


  • Adam Herbert
  • Georgina Stebbings
  • Alun Williams
  • Stephen Day
  • Robert Erskine
  • Craig Sale
  • Phillip Hennis
  • Ian Varley

Research background

This research has now grown into a large collaborative effort across multiple institutions (Birmingham City University, Manchester Metropolitan University, Nottingham Trent University and Liverpool John Moores University) after beginning as smaller projects.

The basic premise of the project is to investigate bone mineral density in athletes and understand which genetic variants may be associated with this phenotype as well as stress fracture incidence in high-level athletes. We have amassed a substantial participant cohort of national to elite level athletes to explore this concept in depth.

Research aims

Specifically, we are hoping to identify the genetic variants that may be associated with bone mineral density and stress fracture incidence.

If such variants can be identified, exercise/training programme modification could be implemented which in turn could have a substantial impact on performance and health in athletes as well as within the military and public health in the future following further research.

How has the research been carried out?

We have gathered bone mineral density data using a dual-energy x-ray absorptiometry (DXA) scanner as well as genetic information via blood or saliva samples. We then subsequently examine the bone mineral density and genetic information to see if any variants are associated with causing certain individuals to have higher or lower bone mineral density.

Research outcomes

We have found that certain genetic variants may contribute towards high or low bone mineral density and/or risk stress fracture incidence. We are continuing to investigate more genetic variants with these phenotypes as new potential genes that may be associated with bone are discovered regularly.

More information can be found via this published paper.