August 11, 2011  Print

In one of the largest human genetic studies ever undertaken, scientists have identified the major common genetic variants that contribute to the cause of the devastating neurologic disease, multiple sclerosis (MS).

The results of the study are published today in the prestigious scientific journal, Nature. They represent years of work by the International Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250 researchers in 15 countries. Australian scientists have played a significant role and more than 1000 Australians with MS contributed DNA samples.

The study confirmed the presence of up to 57 MS genes with a remarkable pattern that shows that the reason some people get MS and others don’t is largely due to subtle, inherited differences in immune function. It points to a pivotal role for T cells – the ‘orchestra leaders’ of the immune system and makes it clear that MS is primarily an immunologic disease.

The Australian and New Zealand contribution was led by Prof Graeme Stewart, a Clinical Immunologist in the Westmead Millennium Institute, University of Sydney . It involved a consortium of 18 researchers from 5 states and New Zealand (in a group called ANZgene). Prof Stewart is one of five governance members of the IMSGC (with colleagues from Cambridge, Harvard, Yale and UCSF) and a member of the 11 person Project Direction Committee for the Nature study.

“Discovering so many new leads is an enormous step towards understanding the cause of MS,” Professor Stewart said.

“Most importantly, for people with MS, these genes also strengthen the case for immunologic treatments currently in clinical trials and point to new therapeutic approaches.”

A/Prof David Booth, the Australian representative on IMSGC Strategy Group, added “It is amazing that we have over 50 MS genes when as recently as 2006, we had only one. Such is the enormous power of the new research tools coupled to a massive international collaborative effort”

Previous Australian research has suggested a link between Vitamin D deficiency and an increased risk of multiple sclerosis and the ANZgene consortium identified a vitamin D gene on chromosome 12. The international study has now identified a second vitamin D gene and provides insight into a link between genetic and environmental risk factors.

Multiple Sclerosis Research Australia (MSRA), together with the Australian government, has funded MS genetic research over the past ten years.

MSRA’s Executive Director Jeremy Wright welcomed the breakthrough announcement. “This is a terrific milestone which brings welcome new hope to people with MS and great credit to the researchers. The Westmead Millennium Institute and ANZgene groups played a significant role in this international effort and have put Australia in the front line of potential new findings in both the diagnosis and treatment of MS,” Mr Wright said.

The genetic testing and statistical analyses for the Nature paper were funded by the Wellcome Trust in the UK and the study was led from Cambridge and Oxford Universities.