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Author Topic: Celiac genes  (Read 2546 times)

Offline HouseKat

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Celiac genes
« on: December 26, 2007, 02:21:49 PM »
I had testing done by Prometheus Labs that showed that I am negative for DQ2 and DQ8, but that I do have DQ1.  I'd like to find out if there are others like me who have DQ1, but not the "classic" celiac genes, DQ2 and DQ8.

Kate

Offline CarolM

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Re: Celiac genes
« Reply #1 on: December 28, 2007, 01:56:30 PM »
Wow, I don't even know.  My diagnosis came as a result of an endoscopy that showed the "flattened" villi characteristic of celiac disease.  I don't think I was given a blood test (it was a few years ago and I don't remember).  My doctor was a fool anyway.

If I understand this article correctly, it's rare but not impossible to be negative for DQ2 and DQ8 and still have celiac disease: 
In a recent European report, only 0.5% of celiac patients lacked both DQ2 and DQ8.

This article at Celiac.com also discusses this issue and has advice on the type of testing performed and pertinent laboratories.

Some sites such as CeliacCenter.org still insist that "the absence of DQ2/DQ8 almost certainly rules out CD."  (Note the word almost.)  This same article also states, "Currently, the intestinal biopsy is the gold standard for the diagnosis of Celiac Disease, and therefore, is considered essential." 

I would tend to agree that the biopsy is the best way to discover if you have CD, since the genetic markers are not conclusive.  Also, they still don't know all the necessary genes to develop CD.

I hope that helps you get closer to some answers.

Carol
:)  Gluten-Free since January 5, 2002  :)

Offline jaysmommy

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Re: Celiac genes
« Reply #2 on: June 24, 2008, 10:43:42 AM »
What is involved in getting tested for the genes? I am just wondering because IBS and Chron's Disease run in my family and it is quite possible my son is celiac but not officially diagnosed, should I and possibly my husband (to see if he may have the genes) and daughter get tested. I am wondering if some of my mom and sister's issues be a result of gluten..... :?
April

Tommi- 3/18/03
Jay- 6/9/06

Offline the sensible celiac

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Re: Celiac genes
« Reply #3 on: June 24, 2008, 06:33:08 PM »
What is involved in getting tested for the genes? I am just wondering because IBS and Chron's Disease run in my family and it is quite possible my son is celiac but not officially diagnosed, should I and possibly my husband (to see if he may have the genes) and daughter get tested. I am wondering if some of my mom and sister's issues be a result of gluten..... :?


I strongly suspect that a very high percentage of people diagnosed with IBS in fact are suffering from celiac disease.

Here is one site doing genetic testing for Celiac Disease.

This site seems to resell the DNA testing of the first site I linked.

I have no personal experience with DNA testing for celiac disease, since I was diagnosed over ten years ago.

Offline jaysmommy

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Re: Celiac genes
« Reply #4 on: June 25, 2008, 07:13:49 AM »
Thanks. I think it may be worth mentioning to the GI and/or the pediatrician. I am wondering if the insurance would pick it up......

I think I will be mentioning concerns of celiac and the link with IBS to my family.....
April

Tommi- 3/18/03
Jay- 6/9/06

Offline the sensible celiac

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Re: Celiac genes
« Reply #5 on: June 25, 2008, 08:20:48 AM »
One thing to keep in mind about the genetic testing is that it can only determine if you have the genetic pattern that makes it possible for celiac disease to manifest.  If I understand correctly, a positive match for the genetic markers only establishes that a person is capable of developing the condition.

Still, if a test is positive and a patient is exhibiting severe digestive distress, it should not take a genius to reach a logical conclusion.

Offline jaysmommy

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Re: Celiac genes
« Reply #6 on: June 27, 2008, 06:27:38 AM »
That's what I would think. My son is exhibiting symptoms, but all other tests are either negative or inconclusive. Having the genetic markers in his case may help with the diagnosis.  :-) And then of course I want to know if I am a carrier.....
April

Tommi- 3/18/03
Jay- 6/9/06

Offline Mari

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Re: Celiac genes
« Reply #7 on: July 22, 2008, 12:21:09 PM »
Two years ago I had a blood test which showed I was positive for gliadin antibody, negative for tissue transaminase and positive for Cow's milk allergy. I had obvious sprue, was feeling unwell, digested food poorly and could not tolerate many foods, had several fluid filled joints, chemical sensitivities, itchy skin and  rapicly decaying teeth. I went on a gluten and diary free diet and felt much better but still had problems. My phydician thought I might have Celiac Disease but didn't seem to know much about treating it. I read about the disease online and decided to not have the recommended procedures and instead ordered the DNA tests from Enterolab.com. The report said DQ2 B 302 and DQ2 B 602 and that the 302 allele was a main celiac marker and 602 was a Gluten sensitivity marker. This meant that I had inherited a Celiac marker from one parent and a Gluten sensitivity marker from the other parent. This combinitation meant that if I developed Celiac Disease it would be made worse by the presence of the Gluten sensitivity marker.

I have a brother and a great-uncle who developed Type 1 Autoimmune diabetes as young men. Apparently all three of us inherited the DQ2 602 which results in Type 1 Diabetes in men and intestinal gluten related problems in females.

I found a website where I could enter my two markers and see the worldwide occurance of that combination. It was fairly common in Russia and then spread across europe to Belgium and France then the British Isles. Another path led more south to southern europe and to North Africa. There were several western North American amerindian tribes who carried the combination apparently inherited from the early Russian settlers along the Pacific coast. This followed the spread of my mitochondial Haplogroup T2 DNA which originated in Russia about 10,000 years ago and came to me from my Welsh maternal ancestor.

Offline jaysmommy

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Re: Celiac genes
« Reply #8 on: July 22, 2008, 12:36:02 PM »
I am new in regards to the DNA.....you really have done some research..... the more I think about it I think I would rather do that if I can then do another colonoscopy to see if there is any difference....
April

Tommi- 3/18/03
Jay- 6/9/06