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Study Shows Celiac, Crohn's Disease Share Genetic Links

New link between celiac & Crohn's disease. Photo--DNA strand: CC- Mark Cummings 02/18/2011 - In their search for a deeper understanding of the connections between celiac disease and Crohn’s disease, scientists have begun to focus on genetic variants that trigger inflammation in the gut.

A research team examining associations between celiac disease and Crohn’s disease has now confirmed four common genetic variations between the two diseases.

Their discovery may help to explain why people with celiac disease suffer Crohn’s disease at higher rates than the general population.

Better understanding the genetic connections will likely pave the way for new treatments for symptoms common to both conditions, such as inflammation.

The study used a new method of analysis called a genome-wide association study, or GWAS. This allows researchers to look at hundreds of thousands of genetic variations, called single nucleotide polymorphisms, or SNPs, that may be involved in any one disease.

The research team compared 471,504 SNPs, representing the genomes of about 10,000 people, some of whom had Crohn’s disease, some of whom had celiac disease, and others who were healthy.

They found four genes that seemed to raise the risk for both diseases. Two of these genes, IL18RAP and PTPN2, had already been associated with each disease.

Another, called TAGAP, had previously been identified as a risk factor in celiac disease, but was newly associated with Crohn’s disease.

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The fourth gene, PUS10, had been previously been tied to Crohn’s disease, celiac disease, and ulcerative colitis.

Three of the four genes seem to influence immune system response to perceived threats.

“The first three we can say are involved in T-lymphocyte function,” Rioux says. “They seem to have a role to play in how these cells respond to a given stimulus.”

In celiac disease, gluten-induced intestinal inflammation causes damage that prevents the intestine from absorbing nutrients in food. This can cause a wide range of problems, from anemia to osteoporosis to lactose intolerance.

In Crohn’s disease, inflammation of the digestive tract often causes the bowel to empty frequently, resulting in diarrhea, among other problems.

Some research shows that people with one condition are more likely to have the other. One study, for example, found that more than 18.5% of people with Crohn’s disease also have celiac disease.

The study has “completely changed the way we can identify genetic risk factors,” says study co-author John D. Rioux, PhD, an associate professor of medicine at the University of Montreal, in Quebec, Canada.

“There are sequence differences at the genetic level that get translated down to the protein levels,” Rioux notes. “And these differences may really nudge a person toward inflammation."

He adds that "we’re just in the beginning, but we hope they may elucidate a common pathway and one day help us discover treatments that correct the underlying genetic changes.”

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11 Responses:

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said this on
21 Feb 2011 7:46:07 AM PST
Clearly written, informative and useful for the lay reader. Thank you.

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said this on
21 Feb 2011 1:40:02 PM PST
This is really interesting and I suspect it's just the beginning in understanding how various genetic predispositions interact. For instance, I have two copies of one of the gene variations for gluten sensitivity as well as two copies of a gene variation for poor methylation. Did each of my parents really just happen to have these two unrelated gene variations, or are they related in a way we don't yet understand? I bet it will turn out to be the latter.

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said this on
21 Feb 2011 4:38:46 PM PST
18.5% is a very strong relationship.

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said this on
28 Mar 2011 5:56:55 PM PST
Thank you

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said this on
25 Jan 2012 9:29:02 PM PST
My mother has celiac. I have tested negative for celiac but I have all the symptoms of Crohn's. I was wondering if there may be a genetic connection between the two. Thank you for your research.

Rating: ratingfullratingfullratingemptyratingemptyratingempty Unrated
said this on
10 Jun 2013 12:05:03 PM PST
Virginia, if you have all the symptoms, then you 99% chance have it. This happened to me when 4 years before I was diagnosed. The doctors told me that I didn't have it even though I did. And then, again, they told me I didn't have celiac disease last year even though I do. One thing I've learned from all this is not to trust your doctor and to do your own research. Because this article has made me wonder why they don't read the available studies. There is already a lot of research that says undiagnosed celiac disease can cause Crohn's disease. Undiagnosed lactose intolerance can also cause IBD.

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said this on
24 Dec 2012 2:52:19 PM PST
I heard this from my brother's GI doctor. We're twins; he has Crohn's and I have celiac disease, and he found this very interesting, and I was a little surprised that they were connected. I'm glad I found this article; it gave me a little more insight to it.


said this on
24 Mar 2013 7:45:44 PM PST
Both my niece and myself has been diagnosed with Crohn's disease and now my doctor on Friday sent 3 different biopsies to the pathologist. Strangely, my niece and myself have had to get an endoscopy and colonoscopy.

Christy Petty
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said this on
16 Jul 2013 6:09:36 PM PST
I think Crohn's IS celiac. There is not anything perfected on the finding of celiac, other than no wheat in diet and get better. All of the celiac tests are iffy. What symptom of Crohn's is not a symptom of celiac disease? MDs would rather diagnose Crohn's with meds and continual follow up visits, instead of telling you to stop wheat and move on with living, without them.

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said this on
29 Oct 2015 12:18:57 PM PST
Not sure what doctor has ever told someone with celiac that they can just stop eating wheat and move on with their lives. Both my children have been diagnosed with celiac and have to have blood work and biopsy done yearly. Celiac has to do with a lot more than wheat. My daughter is now going through testing for Crohn's (just so you know these are very different test than what we went through for celiac). I think you should do a little more research before you claim that celiac and Crohn's are the same thing.

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said this on
25 Mar 2014 4:38:35 AM PST
I totally agree Christy.

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