A study involving more than 80,000 people worldwide undergoing scans has led to the breakthrough.
Osteoporosis is a common, silent, and often devastating age-related disease. Half of people who fracture their hip after age 80 die within 12 months. Women older than 65 years are at greater risk of dying after hip fracture than after breast cancer. The disease is strongly genetically determined, but the genes responsible have been largely unknown, until now.
The study, published in Nature Genetics, shows variants in 56 regions of the genome influence the bone mineral density of individuals. Fourteen of the variants were also found to increase the risk of bone fracture.
Professor Cyrus Cooper, director of the MRC Lifecourse Epidemiology Unit at the University of Southampton which contributed to the study, said this was the first time such a large number of genetic variants had been robustly associated with fracture risk.
“The findings will lead to the discovery of novel therapies against this common and crippling condition. The study has provided critical information on the interaction between genes and the early environment in determining later bone density, bone strength and fracture risk.”
Researchers from the Erasmus University Medical Centre in Rotterdam led the consortium of investigators from more than 50 studies across Europe, North America, East Asia, and Australia, including a team from UCC led by Prof Brendan Buckley.
Fernando Rivadeneira, assistant professor in Erasmus and lead senior author of the study, said that osteoporosis was strongly genetically determined, but the responsible genes had been largely unknown.
“We have now pinpointed many factors in critical molecular pathways which are candidates for therapeutic applications.”