Researchers have discovered a new gene associated with osteoarthritis.
This is only the third gene to be identified for this painful and debilitating disease that affects more than 40 per cent of people aged more than 70 years.
The disease-associated variant, in the gene MCF2L, was discovered when Wellcome Trust Sanger Institute researchers used data from the 1000 Genomes Project to increase the power of their genome-wide association scan.
By imputing the data from the 1000 Genomes Project, the new study was able to scan for 7.2 million variants and revealed the association of MCF2L with osteoarthritis without requiring any new sequencing to be carried out.
"By using the 1000 Genomes Project data to add value to our original genome-wide association scan for osteoarthritis, we have uncovered a disease-associated gene that had previously remained hidden,” stated Dr Eleftheria Zeggini, senior author from the Sanger Institute.
"We were able to analyse our results in greater detail and zoom in on variants that we hadn’t been able to identify before. We hope that this approach and our findings will help to improve our biological understanding of this very painful disease,” he added.
Osteoarthritis is a complex condition and researchers have found it difficult to identify its genes. Only two loci have been found so far in European populations — GDF5 and a signal from a region on chromosome 7.
The newly identified gene, MCF2L, is found on chromosome 13 and regulates a nerve growth factor (NGF). It has been reported that when people with osteoarthritis in the knee are treated with a humanised monoclonal antibody against NGF, they experience less pain and show improvement in their movement. This suggests that MCF2L is involved in the development of osteoarthritis and provides a new focus for future research.
