7 gene regions identified for coeliac disease

Yesterday researchers announced that they have identified seven gene regions linked to causing coeliac disease.

Also the research found that four of these gene regions are responsible for a predisposition to Type 1 diabetes (the type which occurs from birth), indicating that these discoveries may have broad implications for a range of inflammatory or autoimmune diseases.

Previous studies identified a genetic region on chromosome four associated with coeliac disease. In this study, the same research group identified seven new genetic regions associated with an increased risk of coeliac disease. They compared genetic markers in people with and without coeliac disease and then assessed about 1,000 of the strongest markers in a further 5,000 samples.

The results, published in Nature Genetics (Hunt, K. Nature Genetics, March 2, 2008), identified seven new genetic risk regions associated with celiac disease. Of those seven mutations, six involve genes that control immune responses (four of these, presumably, being the diabetic-type response).

The research team included collaborators from Ireland, the Netherlands, and the Wellcome Trust Sanger Institute, and was led by David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry.

Professor van Heel said: “So far our findings explain nearly half of the heritability of coeliac disease – now studies with many more samples from individuals with coeliac disease are needed to identify the precise causal genetic variants from each region, and understand how these influence biological processes.”

Does this mean we may be a step closer to a solution?

We already know that coeliac disease and diabetes are linked – and that people with some other auto-immune problems may be helped with a gluten free diet. It’s good to have scientific confirmation of what people believe to be the case, and every tiny piece of additional information is moving us closer to a solution to these problems. I also think it is great to see how international these research groups seem to be.

It would be good to know how to volunteer to help with these studies – I’d be happy to donate my blood or DNA, and to persuade my daughter to do the same. We did it before (when she was about three) …


I’ve just gone through my pile of post, and in the most recent issue of Crossed Grain is exactly the information needed.

If you’d like to participate in the next stage of this research by donating some saliva, you should request a pack from David van Heel (email: David van Heel). This pack will be sent to you by post, with a pre-paid envelope for return, and will contain an information sheet, a consent form and a small vial to provide a small sample of spit. If you can recruit an unrelated person without coeliac disease to do the same, that would be great.

I’m just off to talk to my daughter about this. I wonder who we can ask to spit in a vial for us?

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Lucy is the mother of a coeliac, and has been managing a gluten free diet for her daughter for 20 years - though, to be fair, she does do most of it herself now...

5 thoughts on “7 gene regions identified for coeliac disease”

  1. Thanks for sharing this information with us. This explains a lot for why I have gluten sensitivity unlike several of my family members who struggle with pre-diabetes.

    Sheltie Girl @ Gluten A Go Go

  2. Pingback: celiac disease
  3. Hi Sheltie Girl. I think my daughter was unlucky in her choice of parents: a family history of psoriasis on my side, and of coeliac disease on my husband’s! Luckily we don’t seem to do diabetes, but who knows what has yet to come out of the genetic melting pot …

  4. I find the genetic component fascinating and this new research will help shed more light on the celiac/gluten-intolerance gene pool! Great website, Lucy!
    In good health,

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