Australian and New Zealand researchers have discovered two genetic variants which increase the risk of multiple sclerosis (MS) and reveal links to other autoimmune disease. The study was published today in the prestigious scientific journal Nature Genetics.

Australian and New Zealand researchers have discovered two genetic variants which increase the risk of multiple sclerosis (MS) and reveal links to other autoimmune disease. The study was published today in the prestigious scientific journal Nature Genetics. 

Researchers at the Menzies Research Institute have been part of this major collaboration and, together with people with MS in Tasmania have made a significant contribution to the findings announced. 

MS affects some 2.5 million people worldwide and almost 20,000 in Australia. The disease is more common in Tasmania than elsewhere in Australia. It is a devastating autoimmune disease as it occurs at the prime of life and mostly in young Caucasian women. 

Dr Jim Stankovich, Menzies' Senior Research Fellow and genetic statistician led the complex data analyses paving the way to this recent discovery about causes of MS.

 "This is a major breakthrough after more than 10 years of research in Tasmania into the genetic causes of MS," Dr Stankovich said. 

"Our team at the Menzies Research Institute feels very rewarded, having played a crucial role in this major Australian and New Zealand research project."   

"These findings add significantly to the understanding of the link between other autoimmune diseases and MS.  Added to that is an insight into the interplay between Vitamin D and genetic susceptibility in MS which has been a major interest at Menzies."

The research was coordinated by Professor Trevor Kilpatrick, Director of the Centre for Neuroscience at the University of Melbourne and Dr Justin Rubio, Senior Research Fellow of the Florey Neuroscience Institutes based in Melbourne.

Together with over 40 investigators from 11 institutions within the Australian and New Zealand Multiple Sclerosis Genetics (ANZgene) consortium, the team investigated genes that increase a person's risk of developing MS.  

The three year study involved scanning the DNA of 1,618 people with MS (including 279 Tasmanians) and 3,413 people without MS (controls).

"The significant contribution from Tasmania is due to the marvellous support shown by the Tasmanian MS community to research," Menzies' Associate Professor Bruce Taylor said.

"Findings from this new study coincide with previous research undertaken at the Menzies Research Institute that supports a correlation between sun exposure, Vitamin D and incidence of MS," Associate Professor Taylor said.

Using a genome-wide association scan (GWAS) approach researchers scanned the entire human genome in broad brushstrokes; looking at genetic landmarks in the genome called SNPs and then progressively narrowing down their search to individual genes.

After comparing over 300,000 SNPs, two genetic regions on chromosome 12 and 20 showed significant differences.

In addition, chromosome 12 encodes the enzyme that converts Vitamin D, which we obtain mainly through sunlight, but also our diet, into an active form that our body can use.

Dr Justin Rubio who coordinated the GWAS says the challenge now is to definitively identify the gene and the genetic change underpinning these associations.

"This is a major advance that could lead to new treatments and novel approaches to prevent the disease in the future. We expect that within one to two years we will be able to fine map these new regions," Dr Rubio said.

The ANZgene consortium has been coordinated by MS Research Australia, who also facilitated the $1.5million research funding, including a grant from the Australian Research Council.

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Fiona Horwood
Communications Manager
Menzies Research Institute
Telephone:(03) 6226 7751

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