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).

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 Professor Graeme Stewart, a Clinical Immunologist in the Westmead Millennium Institute, University of Sydney. It involved a consortium of 18 researchers from five states and New Zealand (in a group called ANZgene). Professor 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.”

Dr Jeannette Lechner-Scott, neurologist and head of the MS clinic at John Hunter Hospital, as well as vice-chair of the ANZgene collaboration, added, “numerous patients from the Hunter area have participated in this research conducted at John Hunter Hospital and the Hunter Medical Research Institute (HMRI).

“The 57 identified genes predisposing an individual to develop MS will need to be explored further. There are environmental factors that ultimately decide if your predisposition is triggering the disease or not. The interaction between the genetic predisposition and the environment is the next big project.”

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 that 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 10 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.

Hunter MS patient and Ambassador, Vicki Woods, is interviewed by HMRI Communications Manager, Mark Rothfield, about today’s announcement.