The development of the International MS Genetics Consortium has led to the identification of more than 159 genetic variants that are associated with MS. However, we have to ask how important are these and are they involved with the onset of MS, progression or just side-effects of the disease process? In the keynote address at the joint ACTRIMS and ECTRIMS Congress in 2014, Professor David Hafler from the Yale School of Medicine discussed this topic:

“Each (variant) by itself has a small effect on disease risk; but each interacts with the environment. These are not bad genes, and it’s not a bad environment – it’s a bad interaction”.

As an example of this, a study investigated the impact of increased levels of dietary salt on gene expression. This environmental factor interacted with a gene known as SGK1, which when activated led to a dramatic increase in a certain type of cell in the immune system (TH17 cells). These cells have been shown to play an important role in the pathogenesis of MS. This shows that determining the relationship between environmental factors and MS-related genes is a critical next step in improving our understanding of multiple sclerosis.

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