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Discovery of Key Genetic Risk Factor for Celiac Disease Offers Hope of Advances in Diagnosis and Treatment - Results Promise Better Diagnostics and Treatment for Celiac Disease

Celiac.com 06/26/2007 - The results of a study recently published in the online science journal Nature Genetics have revealed a previously unknown genetic risk factor for celiac disease. An international team of researchers set out to study the genetic causes of intestinal inflammatory disorders.

When the study began, it was well known that individuals with celiac disease have specific tissue types that identify wheat proteins. Why healthy individuals with the same tissue type failed to develop celiac symptoms or celiac disease remained unknown, and was a key question the team set out to answer. The team was led David van Heel, Professor of Gastrointestinal Genetics at Queen Mary, University of London. The Human Genome Project and the Hap Map Project played key support roles in the study.

The results show that a protective DNA sequence in a specific gene segment, generally found in healthy individuals are missing in people with celiac disease. The research team evaluated genome data of 778 individuals with celiac disease and 1,422 controls non-celiacs within the British, Irish and Dutch populations.

Key DNA Sequence Missing in Celiacs

Researchers discovered that, compared to people with celiac disease, healthy people more commonly have a DNA sequence in the interleukin-2 and interleukin-21 gene region that protects against celiac disease. Interleukin-2 and interleukin-21 are cytokine proteins that are secreted by white blood cells, and which control inflammation. In people with celiac disease, the protective DNA sequence most likely leads to lesser amounts of these cytokines being produced, which weakens the defense against intestinal inflammation.

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Breakthrough in Better Understanding Risk Factors for Development of Celiac Disease

About 1 in 133 people develop the disease, but, so far, predicting those at risk to develop the disease has been haphazard at best. Present methods of genetic testing can only narrow down the search to about 30% of the general population. These results give doctors a means to discover what further genetic risk factors leave people vulnerable to developing celiac disease.

Queen Mary, University of London Press Release - Public release date: 10-Jun-2007

health writer who lives in San Francisco and is a frequent author of articles for Celiac.com.

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1 Response:

 
Patrick McCormack
Rating: ratingfullratingfullratingfullratingfullratingfull Unrated
said this on
08 Feb 2008 8:28:10 AM PDT
It IS VERY GOOD INFORMATION




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I'm already noticing a difference after five days on the gluten-free diet...acid reflux is gone and stomach pain is getting better. I am glad you're going to try the gluten-free diet, Vanillabean, and get copies of all your results. I hope you find some relief from the pain soon! I'm still waiting for my biopsy results. I did call my doctor's office today and found out the genetic test was positive for a celiac gene (DQ8). My doctor was hoping to rule out celiac with that test, but now it's still up in the air. Still waiting.

meeeeeee!!!! i used to get pneumonia every single winter!!!! and all the flus and colds, etc - i am surrounded by kids and germs, but when they all get the flu, i do not. my husband (mr-play-through-the-pain) even got knocked down (spent 2-3 days in BED miserable) by the last round of virus, but not me. not to mention no headaches, no migraines, etc. hormones and the dreaded menopause, like hellodee2 said, is a whole 'nother ballgame lolz glad you are feeling better

Hello there! So I have been experiencing horrible digestion problems after consuming gluten for years and just last week I woke up with a severe headache with breathing problems following a day where I ate more gluten containing products than I normally do. I figured maybe it was an allergic reaction to wheat, so yesterday I went to my allergist for food allergy testing. She suggested I also get the celiac blood panel done, so she ordered it. This morning I received two results and I am extremely confused by them. I should also mention when Kaiser released test results they are always very confusing. IGA my range: 109 mg/dL Normal range: 70 - 400 mg/dL TISSUE TRANSGLUTAMINASE IGA my range: <1.23 U/mL normal range: <=3.99 U/mL My question is, is it normal for my IGA to be in that range. Would it affect the accuracy of the test results?

So, here goes...my visit with the GI specialist is on Monday. I had tested positive for the IGG antibody and all other bloodwork was negative. I had numerous trips to emerg with stomach pain, lower back pain, tingly tummy, and diarrhea with alternating "c" (I had the word constipation). One diagnosis of diverticulitis, another of IBS, and symptoms continued to get worse....Low B12 for 7 years and abnormal liver (something like hepatocellular disease with cirrhosis). I only have a glass of wine on the weekends...I had been diagnosed in my early 30s with IBS and imodium helped. I also had a rash on my elbows and back and that is when my new GP said maybe it is celiac and she sent me for bloodwork and 3 months later finally get to see the GI specialist. I went gluten free and at first it was hard. It is much easier now...I think at time I give myself contamination because I get some bouts of pain on occasion and I take buscopan and immodium and then I am fine....I am 100% convinced I have celiac but I guess I really do not understand how the rest of the panel would be negative... The rash, the GI symptoms, the B12, and the liver issue all paint a compelling picture...I never thought I would say this but I hope it is truly diagnosed because then I can move forward with a plan. I am down 22 pounds and back at the gym very hard and feeling almost normal for the first time in many years....I also find is so strange that my "gluten" attack usuallys starts with a pins and needs tingly sensation in my back and tummy...I have written a full history and have copies of all my test results so the GI specialist takes me seriously...I read his reviews and they are not good....I understand I will have to do gluten before the endoscopy but that fine...just looking forward to this being partly over...Have a great day!

http://www.cureceliacdisease.org/faqs/ You can also find lots of information on celiac at the University of Chicago celiac site. One test they suggest is the anti EMA antibodies. I don't see that one listed in her results. Probably because it is more expensive to do. So they may have skipped it. The other test they usually do is the total serum IGA levels, which is used to prove that the person's immune system actually makes IgA antibodies. Some people don't make IgA antibodies, so the IgA tests are useless in them. It looks to me like she makes IgA though, if this is the serum IgA result. IgA 133 mg/dl Reference range 33-200 There are also gene tests they can do. The genes indicate the possibility of developing celiac disease, not the automatic presence of celiac disease. About 30% of people in the USA have one of the genes for celiac disease, but only about 1% develop celiac disease. Some of the celiac genes are associated with other autoimmune conditions besides celiac disease. So there are lists of AI associated conditions with celiac disease. Sometimes called related conditions. http://www.drschaer-institute.com/us/celiac-disease/associated-conditions-1051.html