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European Researchers Find More Clues to Celiac Disease Genetics

By March 2, 2009

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Almost exactly a year ago, I blogged about an announcement by European researchers of their discovery of seven gene regions that are linked with a risk for celiac disease. That discovery bought to nine the number of gene regions known to predispose people to developing celiac disease.

Last week, members of the same team described some of their latest research in a paper in the journal Gut. Because the paper is very technical, I asked the senior researcher -- Dr. Cisca Wijmenga, from University Medical Center and the University of Groningen in The Netherlands -- to explain the findings for us in language that's easier to understand. She replied right away -- and if you read through to the end of this post, you'll realize that those of us with celiac disease are very lucky to have Dr. Wijmenga in our corner.

“With the publication in Gut we now have 10 established genetic risk factors for celiac disease outside the HLA region,” Dr. Wijmenga said. (It’s been known for quite a while that genetic variants in the HLA-DQ region are linked with celiac disease.) These findings, she continued, "provide starting points for understanding the disease process, as the genes point to the cellular pathways involved in celiac disease.”

“The majority of these genetic risk factors are not unique for celiac disease but are shared with other immune related diseases,” Dr. Wijmenga added.

In January, she and several colleagues wrote an article for the journal Nature Reviews Genetics, to update the rest of the genetics community on the status of research on the shared genetics of immune diseases, and also to explain how recognizing which genes are linked with multiple autoimmune or chronic inflammatory disorders helps shed light on how these diseases develop.

“We are currently trying to identify more genes and hope that these will help in the future for the development of more accurate risk models,” Dr. Wijmenga said. “These can be used in two ways: diagnosing who is at risk (particularly helpful in families) and [predicting] how the disease will progress.” Predicting how a disease will progress can be extremely helpful in deciding how and when to treat it.

You can visit the University of Groningen website and learn more about Dr. Wijmenga. Here's a bit of what she says on their site: "Celiac disease is my ‘baby’; it is a disease that has so far been relatively underexplored.... I particularly hope that this research will give us a better understanding of why celiac disease occurs. As soon as you know the cause, you can start to examine new ways of fighting the symptoms other than a gluten-free diet, which interferes strongly in a patient's life."

"In the future," she says, "we might even be able to prevent the disease by intervening at an early stage. However, in this type of research you can only take small steps at a time, so you have to be patient."

Sources:

Trynka G et al. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-κB signaling. Gut. Published Online First: 24 February 2009. doi:10.1136/gut.2008.169052

Zhernakova A, et al. Detecting shared pathogenesis from the shared genetics of immune-related diseases. Nature Reviews Genetics 2009;10:43-55. doi:10.1038/nrg2489

Read about other recent advances in celiac disease research.

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Comments
March 4, 2009 at 11:30 am
(1) Kelly says:

In the past (and probably most people still think this way), when someone didn’t have one of the two HLA-DQ genes they were told they couldn’t have celiac disease. So now with this new info , do people need to be tested for all genes regions associated with celiac in order for the test result to be accurate?

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