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Using HLA Alleles to Stratify Celiac Disease Risk Levels

Celiac.com 10/02/2009 - A team of researchers led by Michelle M. Pietzak, M.D., of the University of Southern California Keck School of Medicine in Los Angeles, recently conducted a large-scale study to identify HLA-DQ haplotypes most connected with increased risk of celiac disease.

Their results show that for people with elevated risk factors for celiac disease, it is in fact possible to stratify risk based on HLA-DQ genotype, according to results of the study published in the September issue of Clinical Gastroenterology and Hepatology.

The research team analyzed blood samples from 10,191 subjects with elevated risk for celiac disease due to clear clinical symptoms, an affected family member, or the presence of other conditions associated with celiac disease.

They found that eight major genotype groups commonly tested positive for anti-endomysial immunoglobulin A. They also noted a steady progression of elevated risk rising from 2.11 percent for DQ8 heterozygotes up to 28.28 percent for DQ2.2+DQ7.5 homozygotes.

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Additionally, they discovered that the relative risk for anti-endomysial immunoglobulin A positivity of DQ8 homozygous:heterozygous was about the same as DQ2 homozygous:DQ2.5 heterozygous samples, with an odds ratio of about 4.0 for each.

Based on the results, the team concludes that the information might "further quantify the relationship between the expression of celiac disease-associated heterodimers and the occurrence of celiac disease, aid in characterizing previously indeterminate cases, and potentially avoid intestinal biopsies when used in combination with highly sensitive and specific serology."

The add that "targeting these high-risk alleles might aid the design of peptide immuno-therapeutic strategies to augment the gluten-free diet."

Prometheus Laboratories underwrote the study, and all study authors work or consult for the company.

Source:
Clinical Gastroenterology and Hepatology - September, 2009.

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1 Response:

 
Nora
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said this on
11 Oct 2009 6:11:17 AM PDT
must be a typo here, should be DQ2,2+DQ7,5 in this line: "heterozygotes up to 28.28 percent for DQ2.5/DQ2.2+2.5 homozygotes." (DQ2,2+DQ7,5 together make up trans-DQ2,5)




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MelissaNZ, Has your daughter been checked for vitamin deficiencies??? Vitamin D deficiency symptoms include urinary incontinence, oral candidiasis (thrush), skin rashes, bumps on the backs of arms, joint pain, distended stomach and short stature. Bones can't grow much without vitamin D. Vitamin D deficiency causes delayed gastric emptying (food doesn't move through the gastrointestinal tract at a normal speed and the intestines bloat) which explains your daughter's delayed reaction to the cake. Vitamin A deficiency is also a cause of bumps on the back of the arms. Vitamin A deficiency causes vision problems. Vitamin A and D are both fat soluble vitamins. Absorption of fats is a problem for Celiacs. So is absorption of B vitamins and important minerals. B Complex vitamins are water soluble and must be replenished every day. Skin rashes are associated with several B vitamins like niacin (B3), B12, and thiamine (B1). I went through a period of severe malnutrition prior to diagnosis. It was not a pleasant experience. I had symptoms similar to your daughter's, including the incontinence, which resolved on vitamin D supplementation. Please, please have your daughter tested for vitamin D deficiency. And have her B vitamins checked as well. Celiac Disease causes malabsorption. Malabsorption causes deficiency diseases. Newly diagnosed Celiacs need to be checked for deficiencies. I hope this helps.

I will try to make my long story short, I have been searching my whole life for a diagnosis, I have seen pretty much every doctor possible I even went through a spinal tap recently because they thought I had multiple sclerosis, when I was younger I was always throwing up and having stomach problems, a couple hospital visits they thought I had appendicitis, I started having a neurological symptoms as well as anxiety and depression, The fatigue was just over bearing, I was having numbness and tingling and muscle spasms all the time eventually started having seizures, which kind of cycled through and stop happening after a couple months, and then it dawned upon me my brother has celiac pretty severely, my grandmother also has celiac, my dad does as well, I don't know why I never thought that it could be my issue, for the last week I have Been gluten-free and steering clear of cross-contamination, my dizziness is improved my fatigue is improved as well as rashes I was getting on my arms and sides, I have no more muscle jerks or spasms, The problem is I have horrible insurance and I cannot afford testing, so I am at least trying to do it an home blood test, I know it's not very accurate on telling me if I have celiac or not, But the thought I may never know for sure if I have it is very daunting. My family keeps telling me you don't need to spend thousands of dollars to have a doctor tell you you can't eat something you already know you can't. Just was wondering if anybody else has been in my position and seeing if anybody has a vi just was wondering if anybody else has been in my position and seeing if anybody has advice, I don't want to be known as one of those people who believe they have something and people with the disease frown upon them it's a very scary thing to think about.

...ON a side note this is quite easy, you can make your own out of any gluten-free Bread mix, I recently started using a coconut flour blend for this.......Most often people associate caraway with Rye Bread so you just add caraway seeds to the dough and a bit more vinegar to sour it a tad and BAM gluten-free Rye Bread knock off. I think Authentic Foods even has a additive to put in bread mixes to make it taste like Rye Bread....Or you can buy it preamade, I have issues with all the other ingredients but as for one of the best gluten-free Breads out the Canyon House makes a Rye like bread https://canyonglutenfree.com/buy-gluten-free-bread-products/Gluten-Free-Rye-Deli-Sandwich-Bread.html

Took me less than a minute, although why did they need our addy and phone?

As mentioned before you said she had rashes, have they checked if that is DH? That is a positive sign of celiac and those with the DH manifestation can have problems getting a postive with the gut biopsy. Here are some links. https://celiac.org/celiac-disease/understanding-celiac-disease-2/dermatitis-herpetiformis/ https://www.gluten.org/resources/getting-started/dermatitus-herpetiformis/ Please read up on this. She can get the rash tested for the disease if it is DH.