Multiple Sclerosis Susceptibility Genes and the Immune System

Many of the genes that affect whether an individual is at higher risk of developing Multiple Sclerosis have been identified, but their effect on the potentially altered development and function of the immune system in MS is unknown.

We have previously identified the immune gene CD40 as a risk gene for MS. This gene product is involved in the activation of cells of the immune system, and has also been shown to play a role in the development of other autoimmune diseases. More recently, we have shown that the expression of the CD40 protein is altered in immune cells of people with MS. Our work is focused on establishing how this alteration effects the development of the immune response in people with MS, and how we can use this information to develop therapeutic strategies.

This project extends to analysis of other MS susceptibility genes to gain a better understanding of the functional consequences of altered immune gene expression in the development of MS.


Vanessa Bryant (Walter and Eliza Hall Institute)

Phil Hodgkin (Walter and Eliza Hall Institute)

Helmut Butzkueven (Department of Medicine, University of Melbourne)



National Health and Medical Research Council

Multiple Sclerosis Research Australia

National Multiple Sclerosis Society (USA)


Selected Publications:

Binder, M.D., Fox, A.D., Merlo, D, Johnson, L.J., Giuffrida, L., Calvert, S.E., Akkermann, R., Ma, G.Z.M., ANZgene, Perera, A.A., Gresle, M.M., Laverick, L., Foo, G., Fabis-Pedrini, M.J., Spelman, T., Jordan, M.A., Baxter, A.G., Foote, S., Butzkueven, H., Kilpatrick, T.J., Field, J. (2016) “Common and low frequency variants in MERTK are independently associated with Multiple Sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status” PLoS Genetics. 12(3):e1005853


Field., J, Shahijanian, F., Schibeci, S., Australia and New Zealand MS Genetics Consortium (ANZgene), Johnson, L., Gresle, M.,  Laverick, L.,  Parnell, G., Stewart, G., McKay, F. Kilpatrick, T., Butzkueven, H., Booth, D. (2015) “The MS risk allele of CD40 is associated with reduced cell-membrane bound expression in antigen presenting cells: implications for gene function” PLoS ONE10(6):e0127080

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