Genes increases risk of osteoporosis fractures

World Health Matters (Sweden) – by Gary Finnegan – Scientists in Sweden believe that have identified a set of genetic variations which cause osteoporosis.

Researchers at the Sahlgrenska Academy at the University of Gothenburg say women with a higher proportion of the genetic variations associated with osteoporosis have a more than 50% increased fracture risk.

The study, published in Nature Genetics, notes that while the consequences of osteoporosis are well described the causes have been largely unknown – until now.

Research has identified a total of 56 genetic regions that control bone density in human beings. Fourteen of these genetic variants directly increase the risk of fractures, according to the new study.

“This is the first time anyone has identified the genetic variants that are so strongly associated with an increased risk of fracture,” said Prof Claes Ohlsson of Sahlgrenska Academy.

A consortium of researchers, which also involved Umeå University, Uppsala University and Malmö University, studied the genetic make-up of a total of 80,000 people and 30,000 fracture cases, making it this 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% higher risk of osteoporosis as compared with women who have a normal set-ups of the same genetic variants,” Prof Ohlsson said.

The findings could ultimately inspire new treatments for patients as researchers will now set about targeting the molecular signalling pathways linked to bone density. A deeper understanding of these pathways could pave the way for new drugs which would disrupt biochemical messages that encourage bone decay.

Geneticists will also examine the prospect of gene therapy, directly targeting the genetic regions with a proven link to bone density.

“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,” said Prof Ulrika Pettersson, Associate Professor in the Department of Pharmacology and Clinical Neuroscience, Umeå University, a co-author of the study.