The study, published today in Nature Genetics, has identified a number of genes that increase the risk of Paget’s disease, a chronic and painful bone condition that causes inflammation and deformity and affects one in 20 people over the age of 55.
A large part of the genetic risk of Paget’s disease in individuals is accounted for by these genes, some of which are known to play important roles in bone metabolism, while others have not previously been linked to bone regulation.
These genes are likely to be important in bone health, and may play a part in other bone diseases such as osteoporosis and bone cancer.
Because of their relatively large impact, inheritance of a small number of these genes may increase risk of disease.
Further work will be required to explain how the identified genes are functionally linked to Paget’s disease (e.g. altered gene expression, mutations that lead to gain or loss of function).
The relatively large impact of these genes suggests that it may be possible to use genetic profiling in the future to identify people at risk of developing Paget’s disease.
These novel research findings form part of ongoing studies into the genetics of Paget’s disease by the Paget’s Disease Research Group of Western Australia, headed by Clinical Associate Professor John Walsh at the Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, in collaboration with colleagues, Lynley Ward, Dr Sarah Rea, Professor Tom Ratajczak, Dr Bryan Ward, Dr Neil Kent and Clinical Professor Bronwyn Stuckey.
These studies have been supported by funding from the NHMRC, Arthritis Foundation of Australia, Sir Charles Gairdner Hospital Research Fund and PathWest.