Landmark genetics study uncovers 48 new MS genes

30 September, 2013
A landmark genetics paper published today has identified 48 new genes involved in the risk of developing MS. These genes are in addition to 57 genes already known to contribute to risk. The study, from the International MS Genetics Consortium with strong Australian and New Zealand involvement, is the largest genetics study to date in MS genetics. The scientific paper has been published in the prestigious journal Nature Genetics.

The study examined genes known to have an immunological involvement in a group of 29,300 people with MS and 50,794 healthy individuals. 1,800 of these came from Australia and New Zealand as part of the ANZgene consortium. The gene pattern and significance of the genes identified provides further evidence that there is an autoimmune component for the relapsing/remitting phase of MS.

There is also substantial overlap with genes known to be involved in other autoimmune diseases such as inflammatory bowel disease, Crohn’s disease and celiac disease. This will deepen our understanding of common mechanisms between these diseases and accelerate progress for autoimmunity research in all of these conditions.

While this information cannot be used now for genetic testing for people with MS and their families, this study further refines genetic risk factors and could be used to predict MS susceptibility in future. Ongoing functional analysis of these genes will uncover new mechanisms of MS and potentially provide targets for treatment in future.

The study was overseen by a governance committee that included Professor Graeme Stewart from the Westmead Millennium Institute and led locally by A/Professor David Booth also from Westmead. ‘This publication represents another giant step forward in understanding the genetic contribution to the cause of MS, a step of equal size to that published in Nature in 2011,’ said A/Professor Booth, ‘It shows again the power of global collaboration in pursuit of the cause and cure of the most common chronic neurological disease of young adults.’

This study is the most recent of ANZgene’s considerable contribution to the genetics of MS. ANZgene is a platform coordinated by MS Research Australia of Australian & New Zealand clinicians and scientists with an interest in the genetics of MS. ANZgene has been running since 2005 with foundation funding from MS Research Australia and the Trish MS Research Foundation. In 2009, ANZgene was responsible for the identification of two new genes associated with MS susceptibility published in Nature Genetics. ANZgene also took part in the previous MS Genetics Consortium collaboration which confirmed the 57 genes associated with risk of MS and was published a landmark paper in Nature in 2011.

Dr Matthew Miles, Chief Executive Officer of MS Research Australia said, ‘MS Research Australia is proud to have provided foundation funding and continued support to the ANZgene Consortium. This work is a huge contribution to our understanding of MS and will underpin intensified efforts to translate these genetic findings into new therapies to reduce the impact of this condition for people with MS worldwide.’

To read the press release please click here.

To read the abstract please click here.


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