UCC part of largest genetic study
Professor Brendan Buckley, UCC
Professor Brendan Buckley, UCC
Osteoporosis is a common and often devastating age-related disease. 50% of subjects that fracture their hip after 80 years die within 12 months afterwards.
Surprisingly, 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. However, this situation has changed dramatically today.
According to a study published in the leading genetics journal Nature Genetics, variants in 56 regions of the genome have been discovered to influence the bone mineral density (BMD) of individuals. Fourteen of these variants were also found to increase the risk of bone fracture. This is the first time such a large number of genetic variants have been robustly found to be associated with fracture risk.
A UCC research team led by Prof. Brendan Buckley was among an international consortium of investigators from more than 50 large studies across Europe, North America, East Asia and Australia, and led by the Erasmus University of Rotterdam. In the largest genetic study in osteoporosis performed to date, they studied the relationship of genes with fracture in approximately 30,000 cases and 100,000 controls.
The study pinpointed many factors in critical molecular pathways that are possible targets for new medicines to stop bone loss. Some of these have become available recently to treat the disease and others are in clinical trial. The potential is further highlighted by the identification in this study of genes encoding proteins that may be targets for future drugs that may stimulate new bone building. Just as interesting is the discovery of groups of individuals with genetic variants that protected them against developing osteoporosis or sustaining fractures.
Approximately 14 years ago, UCC President, Dr Michael Murphy (then Professor of Pharmacology) with Professor Brendan Buckley and colleagues commenced a major clinical trial, the ‘PROSPER’ study, including over 2000 people in Munster, which examined the effects of lowering cholesterol on the incidence of heart attacks over a four-year period. “Blood samples which the participants in that study generously permitted us to store have allowed us to do a huge amount of research that has resulted in a number of important advances in understanding the basis of diseases”, says Professor Buckley. “We are embarked on publication of a further important body of research to unravel how genes might influence the occurrence of a wide range of diseases such as osteoporosis and kidney disease. Of course, no individual can be identified from this research.” This genetic research has been funded as a collaboration between UCC and the Universities of Leiden and Glasgow by the European Commission’s FP7 programme.
This study is part of the GEnetic Factors of OSteoporosis (GEFOS) project sponsored by the European Commission (FP7-HEALTH- F2-2008-201865-GEFOS).
Additional information on the project can be found at http://www.gefos.org/.