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What if I said, “I know I’ve seen this before, but I forgot where..One in 50 patients in the UK with Multiple Sclerosis (MS) is known to have a form of Coeliac Disease (CD). This reflects a paradox, because the genetic cause of MS (mainly a faulty maternal inherited chromosome, called the HLA region) is not an established risk factor for CD. Now it seems that the Maternal inherited HLA region might be protective against MS by causing a form of CD.

Researchers across the world have been working on variants within the HLA region since the 1990s (a full description of the findings is given in the new publication in Science. The journal has now published online some of the findings from the ECTRIMS study. These show for the first time that a specific variant of a gene within the HLA region is associated with MS, suggesting that if we were more certain of the association we might be able to prevent the disease in adults (although this is so far not possible with current therapies). The team also found that having a variant of this gene was protective against developing MS.

The MS patient population is known to vary a great deal depending on where the patients live (a phenotype called ethnicity). The ECTRIMS study found that the frequency of the protective gene variant varies a great deal between patients with MS in different countries in Europe. This suggests that the variant may be less common outside Europe. This is supported by the fact that the variant is absent in all of the ancient DNA samples that were tested, showing that it is relatively new to Europe.

If you want to understand more about the role of Maternal HLA and its influence on MS, have a look at the video I uploaded to YouTube shortly after the summary of the new paper was published:

This study also suggested that the maternal HLA gene variant has a stronger influence on MS risk than the HLA-DQA1 locus (what you would think to be the MS-related gene), which is the closest gene to the HLA-DQB1 gene, which seems to be more directly involved in triggering the disease. This difference probably indicates that the HLA-DQA1 and HLA-DQB1 genes do not share the same effect, and
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