Researchers at the Sahlgrenska Academy at the University of Gothenburg, Sweden, have identified the genetic variations that are believed to cause osteoporosis. The study, published in Nature Genetics and involving leading researchers from Sweden and the world, shows among other interesting facts that women with a higher proportion of genetic variations associated with osteoporosis have a more than 50 percent increased fracture risk.
Osteoporosis is a common and a devastating age-related disease about 50 percent of all who have a hip fracture after age 80 die within one year from the time of injury. The consequences of osteoporosis are therefore well-known, but the causes of the disease are largely unknown.
56 genetic regions for bone density
In a groundbreaking international study, which is led partially from the Sahlgrenska Academy, researchers have now succeeded in identifying a total of 56 genetic regions that control bone density in human beings. Fourteen of these genetic variants increase the risk of fractures, the study, which has been published in the world-leading journal Nature Genetics, has shown.
"This is the first time anyone has identified the genetic variants that are so strongly associated with an increased risk of fracture," comments Claes Ohlsson, a professor at the Sahlgrenska Academy.
Study on 80,000 people
An international consortium, which also involves researchers from Umeå University, Uppsala University and Malmö University, is behind the study. In total, the researchers studied the genetic make-up of a total of 80,000 people and 30,000 fracture cases, making it the world's largest genetic study in this particular area of research.
"We can prove that women who have a large number of genetic variants associated with low bone density have up to a 56 percent higher risk of osteoporosis as compared with women who have a normal set-ups of the same genetic variants," comments Claes Ohlsson.
Targets for new treatment methods
The results have led to several new findings in bone biology, among other things the researchers identified several important molecular signaling pathways for bone density that can be targets for new treatment methods and therapies.
"In addition to already known proteins and pathways that were confirmed by the study, we are now facing a whole new biology in the field of bone research," comments Ulrika Pettersson, Associate Professor in the Department of Pharmacology and Clinical Neuroscience, Umeå University, and co-author of the study.
The article "Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with the risk of fracture" has been published in Nature Genetics on 15 April.
The study is part of the EU-funded project: Genetic Factors of Osteoporosis (GEFOS).