Question About Implication Of Genetic Testing

[Jestgar]

Since not all celiacs are automatically tested for genes on diagnosis I think there are a lot more than just the two most common that are associated with celiac.

Please note that RWG always uses the correct phrasing when she talks about genes. They have not been shown to be causative, only associated. This means you can have celiac disease without these genes, and you can have these genes without having celiac disease, but the two are often found together. Genetic testing should not be used to rule out celiac disease when symptoms are present, nor should it be used to diagnose celiac disease without other diagnostic testing.

[MsCurious]

Yea I didn't consider testing either until my blood and biopsy diagnosed DD had hers done and was told her diagnosis was false. Since not all celiacs are automatically tested for genes on diagnosis I think there are a lot more than just the two most common that are associated with celiac. Doctors just don't realize it yet.

I think that's true Raven. From the reading and research that I've done, they have found instances of suspected celiac association with other genes, but it is not common, and the testing still goes on. I don't believe that just because the population carrying those genes is very small... makes it any less critical or important. You're one of the more rare celiacs that are definintely out there. Many more people carry the two common genes, so more research has been done to confirm their association with celiac, and that is helpful to many many people. That doesn't however, discount the importance of the less known genetic influences. They'll find them all eventually... it just takes time, and just by nature of the beast... the most predominant factors are studied first.

[Flor]

Ms. Curious! Okay I totally GET IT NOW! Thank you SO much, that last round of explanation did it. I really really appreciate your taking the time to walk me through it.

I had also read about the other gene (06) potentially providing some protection against auto-immunity (thank you wikipedia!) so that's a really interesting theory that it might delay onset of celiac. That sure fits with my history.

In terms of our heritage, I know for sure we are a lot of Scotch-Irish and English and German going back a long long way. Maybe a bit of French in there. There are some other strands from my dad's side I don't know as well, but that's most of it. And my husband, for what it's worth, is very much the same. Which may explain why my son and I have same two alleles. I assume the 0201 comes from me and that the 06 is one that my husband and I both have in common.

We don't have a big family history of asthma or eczema or allergies. But I do have some seasonal allergies (and they sometimes seem to be more gut symptoms than your classic sneezy respiratory stuff but I have had both). One of my nieces was diagnosed with asthma as a teen but it wasn't really asthma and inhalers didn't really work. We all wonder now if that was gluten-related (she has the 0201 plus 0202).

My son just in this spring season has started saying he can't get a full breath and at various times seems to be doing a lot of sighing and big breaths. It's just in the last week and I'm at a loss about what to do. I sort of hate to take him to the doc and get an asthma diagnosis. So I am watching it for now because we are just now getting the gluten out of his diet. Do you think the allergy/asthma stuff is really a different face of celiac disease?

I would be delighted to email with you off-list about any of these issues. I am a research nerd and am interested in going as deep into this as I can. I am doing a mid-life career change to get a masters in counseling to be a licensed therapist and part of what really interests me is how much what presents as "mood" disorders like anxiety and depression often has unrecognized underlying physiological causes. The mood issues I've had to deal with turned out to be very gluten and diet related.

I am also in the last six months -- now that my gut is more healed -- dealing with a pretty advanced stage of adrenal exhaustion. Very low cortisol levels, total fatigue, messed-up circadian rhythm, muscle pain (different from the joint inflammation I had before going gluten free), orthostatic hypotension and etc. From my very cursory reading I gather that having untreated auto-immune disease for years can wear out the adrenals so there's a correlation between my celiac disease and my adrenal malfunction. Perhaps also a thyroid relationship too -- I don't know how much research has been done on what portion of the celiac population also has adrenal or thyroid problems. I bet it's high though.

To other contributors on this thread, I want to say thank you for this conversation. And to say a couple of things about how I see the genetic testing. I think it's fascinating by the way that there seems to be widely varying opinions about the relevance of the gene testing. There are folks who seem to say it's irrelevant and others who see it as important. As I read more, i find myself leaning in the latter direction and it's entirely because of my son.

In my case, I was already hugely symptomatic by the time I was diagnosed and went gluten-free. My son has two huge risk factors for developing celiac disease: that I have it as his mom and that he has one of the genes most correlated with getting it. Eating a lot of gluten is one of the factors that increases the change of his getting celiac disease. If I didn't know whether he had the gene or not and I operated as if he were a "regular kid" he would consume a lot of gluten between now and adulthood. And along the way life brings other insults that increase the chances of celiac getting triggered in him -- intestinal infections, life stress, environmental toxins, etc.

One of the key issues for me is that having celiac disease at whatever level and continuing to eat gluten raises one's chance of getting colon cancer and lymphoma by many many times. And it seems to me we don't know the science well enough to know when someone with a predisposition for having celiac disease is actually manifesting low-level inflammation in response to gluten. How many years of that reaction before it shows up as clinical signs?

So when I look at my son who is seven and has a lifetime ahead of him and I KNOW he has this genetic vulnerability to getting celiac, that means for me let's get him off gluten now because gluten for his body is a potential stressor, a toxin really. But if he had my other niece's genes, for example, she's got one gluten sensitive gene and the more rare gene that's the 04 non-gluten-sensitive gene, then I would feel like feeding my son gluten wouldn't necessarily be raising his lifetime risk for cancer. But knowing what I do know about his genes, I feel like feeding him gluten is to raise his risk of getting cancer and that seems worth knowing. Anyway, for what it's worth, this is how I've come to hold is. It's how my doctor sees it as well. But isn't it interesting how many different views there are on this, among doctors and the rest of us? That's why I'm so grateful for this discussion here, to hear the whole range of wisdom and perspectives.

A quick note about my nieces on this topic -- they are both early twenties and both having a lot of new gut and fatigue symptoms. So they both got tested for the gene and for cortisol saliva levels to see about adrenal function. The really interesting thing (to me) is that one has celiac genes and normal cortisol and the other has very low cortisol and no celiac genes. What this means to me, and to them, is that the package of symptoms can look very similar but the road to healing very different. For the celiac gene niece, stopping gluten may be all it takes for her to feel better. For the non-celiac gene niece who has exhausted adrenals, for her the road is more rest and medications and though she is gluten free now, as of yesterday when she got the results, she now imagines a future where she might eat gluten and not worry about it. That's not something her sister will ever be able to do now. So to me, that's a snapshot of why the genetic test is significant.

[MsCurious]

Ms. Curious! Okay I totally GET IT NOW! Thank you SO much, that last round of explanation did it. I really really appreciate your taking the time to walk me through it.

In terms of our heritage, I know for sure we are a lot of Scotch-Irish and English and German going back a long long way. Maybe a bit of French in there. There are some other strands from my dad's side I don't know as well, but that's most of it. And my husband, for what it's worth, is very much the same.

Flor, You're VERY VERY welcome... happy to help any time I can. Its a fascinating topic, isn't it? Your heritage is VERY MUCH like mine Irish, Scotch-Irish, English, German, Dutch. The reason I asked about the German and Dutch, and the allergies, asthma and eczema in your family history, is that I have the same genetic markers that you and your son have, and the DQ6 marker has extremely high ties with Netherlands and Germany, and also with asthma, eczema and allergies, along with the preventative nature against autoimmune disease.

We have a HUGE family history of asthma, allergies, eczema on my dads side, which is the German (Luxembourg), English, Irish, Dutch side and I think I got the DQ6 from him. My mom's side is the Irish, Scotch-Irish, English side and I believe I got the DQ2 from her, although her side is rampant with diabetes, hypertension and gallbladder issues... LOL Lovely genes all around... huh? So who knows! Western Ireland is most closely related with DQ2/DQ2.5 so I think I got that from my dear sweet mum!

Your educational path sounds fascinating, as well! You'll have to keep me posted on the associations you find in your studies. I'm a research nerd as well... I can't seem to ever satisfy my insatiable appetite for knowledge. How weird is that... I love learning..hehehee. Interesting stuff about the differences in your nieces, too! Just goes to show how different we all are, and how things can affect us so differently. Hope your son stays well and you too!

Anyway, it was a fun discussion, and hopefully helped a bit. Stay in touch!

[nora-n]

yes, the wikipedia page is really good.

About Enterolab, they say it is cheaper to only test the beta chains.

In my opinion, they then only miss a few with half chains, mostly some DQ7 who can have 05* in their alpha chains, but not all.

(it is enough to have the 05* in alpha to have an increased celiac risk, but in combination with DQ2,2 it actually makes up DQ2,5 by cis)

You have DQ6 and DQ2,5

your son has DQ6 and DQ2,2

so his father must have DQ6 if you gave your son the DQ2,5, but your husband could have the same as both of you.