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Finding The 'real' Gene For Celiac


gfb1

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gfb1 Rookie

another short day for posts... however, this one might actually be important...

23andMe -- one of the new 'personal' genomics companies -- is beginning to build a large-scale database of major human diseases for research. they are trying to incorporate a 'social network'-flavor to identifying important genetic diseases (obviously, one's where they can make $$$) and are (in their words) 'democratizing' that process.

given the vast number of celiacs out there; this might be an opportunity to steer a bit of research our way.

i've already written a brief email to their board noting the expected frequencies of celiac disease in the US (and the potential profits ....), the differing expectations based on race and geography and, most importantly, the inadequacy of the current MHC-haplotype testing. based on large scale interest and the probability of a small number of genes with large effect that are involved in the disease -- i also suggested that they should be able to reduce the current cost ($99) of participation dramatically.

as they say in chicago, "vote early. vote often."

Open Original Shared Link

at bare minimum for $99 you can find out your HLA-DQ2.5 type.

Traditionally, HLA-DQ proteins have been detected using blood tests that look at proteins, not genes . (emphasis mine, gfb) These tests can pick up all subtypes of HLA-DQ proteins associated with Celiac Disease. 23andMe is not able to provide data about all subtypes of HLA-DQ2 and HLA-DQ8. We only report data on one subtype of HLA-DQ2. Of all the risky HLA-DQ subtypes, this subtype, called HLA-DQ2.5, is most often associated with Celiac Disease.

further, they have been able to identify 3 fairly large 'blocks' of chromosomes that may contain the non-HLA genes that influence celiac. with more patient participation, they may be able to 'narrow' those blocks to identify the actual genes involved...


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maile Newbie

Thanks for the link and the info, I really do appreciate your posts on the gene aspect (or lack of) with celiac :)

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  • Posts

    • trents
      Unfortunately, the development of celiac disease usually is not an end in and of itself. It usually brings along friends, given time. It is at heart an immune system dysfunction which often embraces other immune system dysfunctions as time goes on.
    • Celiacpartner
      Thanks so much for the responses. I will urge him to go for further investigation. To be 48yrs old and develop a new allergy.. ugh, As if celiac disease isn’t enough! 
    • trents
      This does not seem to be an anaphylactic response but I agree it would be wise to seek allergy-food sensitivity testing. You might look into ALCAT food sensitivity testing.
    • Rogol72
      @Celiacpartner, I agree with Scott. We have a food festival yearly in the town I live in, with artisan food stalls everywhere. I spoke to the owner of one of the artisan burger stalls, enquiring if the burgers were gluten-free when I said I was Coeliac ... he said he had a serious anaphylactic allergy to fish himself. He possibly carries an epi-pen or two everywhere he goes. I would go see an allergist as soon as possible as suggested.
    • Scott Adams
      After years of stable management, developing new symptoms to historically safe foods like nuts and fish strongly suggests a secondary issue has developed. It is highly unlikely to be a new gluten issue if the foods themselves are certified gluten-free. The most probable explanations are a new, separate food intolerance (perhaps to a specific protein in certain nuts or fish) or a true IgE-mediated food allergy, which can develop at any age. The symptoms you describe—cramps and the urge to vomit—can be consistent with either. It is crucial he sees an allergist for proper testing (like a skin prick or blood test) to identify the specific culprit and rule out a serious allergy, as reactions can sometimes worsen with repeated exposure.
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