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Mutation of Vitamin D gene (CYP27B1) is strongly tied to MS – Dec 2011

The researchers looked for the gene variant in more than 3,000 families of unaffected parents with a child with MS,
and found 35 parents who carried one copy of this variant along with one normal copy.

In every one of these 35 cases, their child with MS had inherited the mutated version of the gene.

The likelihood of this gene’s transmission being unconnected to the MS is billion to one against

The probability of both is 1 billion (the prob of all 3 cases of genetic rickets having MS) X the prob of 35/35 getting gene variant

"Odds of 30 quintillion to one against," George Ebers (30,000,000,000,000,000,000)

On the very rare occasions when people inherit two copies of the CYP27B1 gene variant, they develop a genetic form of rickets (a disease caused by vitamin D deficiency).
Norwegian collaborators found three such cases in the whole of Norway, and the researchers found that these three people all had MS as well.

"Current opinion suggests that a combination of genetic predisposition, environmental factors such as exposure to sunlight and possibly some sort of trigger, such as a viral infection, interact in some way to start the development of MS," Paul Comer of the charity MS Trust said.

More details at Medical Express


Original study

Vitamin D-gene interactions in multiple sclerosis.

J Neurol Sci. 2011 Dec 15;311(1-2):32-6. Epub 2011 Oct 13.
Berlanga-Taylor AJ, Disanto G, Ebers GC, Ramagopalan SV.
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN, UK; Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK.

Vitamin D has been studied for over a century and its functions related to calcium homeostasis are well established. Over the last 30 years or so it has become increasingly clear that it has a wider role in physiology and, importantly, also in disease. Vitamin D deficiency has been linked to multiple sclerosis (MS); however the molecular mechanisms of this association were poorly understood. Recent technological advances have provided major insights as to how vitamin D may exert its role, particularly through the actions of the vitamin D receptor (VDR). In this review we aim to highlight the importance of the interaction between vitamin D and MS associated genes which provide a biological basis for the association between vitamin D and MS risk.

Copyright © 2011 Elsevier B.V. All rights reserved.
PMID: 22000399


See also VitaminDWiki


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