New research finds rare gene linking vitamin D with MS

A study part-funded by the MS Society has identified that a gene that causes vitamin D deficiency may also cause MS. Researchers at Oxford University found a small group of people with a genetic vitamin D deficiency which has a strong connection to MS.

There is growing evidence of a link between vitamin D and MS. We get vitamin D when our skin is exposed to sunlight and also from some dietary sources. Studies have established that the closer people live to the equator the lower the risk of developing of MS, and sunlight is strongly implicated as a cause. 

The researchers looked at people with MS who have a large number of other cases of MS in their family. When the team studied their DNA, all of the people they looked at had an unusual version of a gene called CYP27B1. Importantly gene CYP27B1 controls vitamin D levels in the body.

In a few very rare cases where people have inherited two copies of the unusual version of the gene, these people were found to have a genetic form of rickets caused by vitamin D deficiency as well as having MS. These findings suggest a strong link in these individuals between vitamin D deficiency and the development of MS.

This research offers further support to a potential role for vitamin D deficiency in MS and may also help to explain why some family’s genes put them at a higher risk of developing MS.

However, there is still much to learn about the causes of MS and, if important, the role of vitamin D will only be a part of the puzzle. More work is needed before we fully understand why some people develop the condition and others don’t.

Dr Doug Brown, Head of Biomedical Research at the MS Society, said: “This is an important development and shines more light on the potential role of vitamin D deficiency on increasing the risk of developing MS. This research is gathering momentum and will be the subject of discussion at an International Expert meeting in the USA this month, the outcomes of which will shape future research that will give us the answers we so desperately need about the potential risks and benefit of vitamin D supplementation.”

The study was published in the journal Annals of Neurology and was also supported by funding from The Wellcome Trust.

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