Coeliac Gene Test

Hi, I've been referred for the coeliac gene test. My blood tests were negative in the past, and didn't have biopsy, but maintaining gluten free life of a coeliac owing to symptoms going and health improving when I removed gluten. More recently my gastro thought the gene test would be a good idea. He stated that if it comes back negative I'm unlikely to have coeliac. Is this true? He's been wrong on quite a few things and do not trust gastro dept at this particular hospital. Anyone know how gene thing works?

[Cooper27]

I went to a research talk on coeliac disease a couple of years ago, and there was feedback from researchers across the UK. Of the thousands of genetic tests they reviewed, they actually only found 1 person to ever be diagnosed with coeliac disease who didn't carry the gene. It is possible, but you would be a 1 in a million (if not more) case!

The chances of having the gene are very high however - 39% of the population are believed to have it.

[Hidden in reply to Cooper27]

Thanks Copper. I doubt that I'm one in a million, or even one in a hundred! Ok, that's good to know in terms of the genetic side. I suppose, given the high percentage having the gene, I could have the gene but still not have coeliac. Ok, things to think about. Thank you. Out of curiosity - have you had the gene test?

[Cooper27 in reply to Hidden]

It's rare for doctors to run the gene test because I think it costs around £100 a pop (coeliac test is <£10) and because of the ratio of how many have the gene compared to how many develop coeliac disease. It's a useful option for someone in your shoes though.

From the research talk, the doctor who spoke said they only routinely used it for children with downs syndrome. They have a very high instance rate of coeliac disease and so they'll do the test on them as children to be aware to watch out for symptoms later on.

[Hidden in reply to Cooper27]

Ok, thanks for that. That's interesting that Downs can lead to higher levels of coeliac. Coeliac such a bizarre condition

[bookish]

From what I have read, over 90% of coeliacs have at least one positive HLA DQ2 gene present which indicates predisposition or risk, not actual disease. About 5% have DQ8 as well or instead. About 30-40% of the population have one or the other and about 50% of non-coeliac gluten sensitives have them too, so it may indicate risk of some other form of gluten illness not just coeliac. Some say DQ1 and DQ3 are also relevant, DQ1 particularly relating to skin and neurological symptoms. So I suppose it rather depends what they are testing and what you plan on changing. I haven't tested as I can't afford it and decided that I didn't need confirmation of what my body was telling me very clearly - gluten and I don't get on. I quit 3 1/2 years ago, then quit all grains 3 years ago after realising that some symptoms were far worse with corn, rice (and potato) in GF bought stuff. If I won the lottery I might do the genetic, just for curiosity, but I wouldn't reintroduce gluten as benefits to me vastly outweigh drawbacks. Peter Osborne's 'Gluten Free Society' do a test which used to be available worldwide, not sure if it still is. Cyrex don't do a genetic test and this is what they give as the reason:

"The clinical application of genetic testing is specifically ruling out Celiac Disease in high-risk individuals. It is not appropriate for the broad-spectrum immune response against gluten. There is value in the genetic testing of the celiac genes (HLA typing for DQ2 (DQA1*05; DQB1*02) and DQ8 (DQA1*03; DQB1*0302), but it is not a first-tier test. There is a strong correlation with certain other conditions and celiac disease such as diabetes type 1, Down’s syndrome, a family history of celiac disease, Williams syndrome, etc… The genetic testing is required with these conditions if the celiac serology is negative. Even with negative celiac serology, a patient on the spectrum of gluten sensitivity may be positive to other gluten peptides (Array 3).

When negative for these genes, the patient’s likelihood of developing celiac disease is very small. But that patient may still be at risk for nonceliac gluten sensitivity. When positive for these genes, a patient’s risk of developing full-blown celiac disease is only about 2%. These patients require ongoing monitoring of an immune reaction to the peptides of gluten."

Hope that is of use. Best of luck

[Hidden in reply to bookish]

Wow, that's really good. Thank you for all that. That's really helpful. Again, I just think coeliac is entirely bizarre and I've come to conclusion no one should be eating it. I wonder back when people first started to cultivate grains if they had issues, or were grains cultivated in a low gene susceptible region (middle east), or did people develop the gene issue after introducing it to their diet. So many question, naff all answers, still have to avoid gluten!!

[bookish in reply to Hidden]

You're welcome. Partly I suspect that we have more external 'stresses' in the widest sense now, making our genetic weaknesses more likely to trigger. Many people have the genes and don't get any (known) issue after all. I recently got the book 'Why Isn't My Brain Working?' by Datis Kharrazian (very good read IMHO) and in his chapter on gluten he says that gluten has been significantly hybridised and deamidated, rendering it inflammatory to humans. Hybridisation can alter the protein sequence by as much as 5% and it appears more prone to trigger immune reactions, especially in the brain and nervous system. Deamidation uses acids or enzymes to make gluten water soluble so it mixes more easily, but also seems to create a severe immune response in some (who have no problem with native wheat flour). He links these two changes as playing a role in increased coeliac disease, gluten sensitivity, inflammation, degeneration and likely neuro autoimmunity. He also says many who do not have genetic DQ2 and DQ8 still have severe reactions to gluten, and talks a lot about its effects on brain and nervous system, as that is the scope of the book. He doesn't say everyone shouldn't eat it, but he does say that if you test positive in any way for gluten sensitivity and then decide not to get it out of your diet you shouldn't bother reading the book!

[Penel in reply to Hidden]

The whole Coeliac thing is indeed bizarre, a paradox. If left untreated it can reduce the individuals ability to reproduce, in theory this kind of genetic mutation should die out over time, but it obviously hasn’t.

One theory is that the gene responsible for Coeliac disease conferred some level of immunity to infectious diseases, which would have been on the rise after the increase in population associated with the arrival of agriculture.

Good luck with the test if you go ahead.

[Hidden in reply to Penel]

Thank you.

[Frodo]

Hidden are you in the UK? I'd like to have this test but they've offered the blood test, which means eating gluten again, and endoscopy. If I am coeliac, this will put me back to square 1 I think, having been off it for 8+ years. I would like a diagnosis though.

[Hidden in reply to Frodo]

Yes, UK based. Negative blood tests for coeliac, no biopsy, not willing to do the gluten challenge, so this was a half-way house offer by gastro who is fed up dealing with me!! I didn't ask for it, but he offered. Think he is keen to get me off his books ; )

[Frodo in reply to Hidden]

Ah, right! Think I will ask, then. Thanks.

[Hil101 in reply to Frodo]

Last summer, with ongoing problems, I paid to have a special endoscopy in Cambridge which did not require eating any gluten. The consultant was able to confirm from biopsies that I do indeed have celiac disease even though I have not eaten gluten for 10-years. Unfortunately, the NHS does not seem to have the biopsy analysis capability to do this unless you go to Addenbrooke's or Sheffield and it is really expensive

[Frodo in reply to Hil101]

Ah, interesting. A rheumatologist mentioned Sheffield to me. I can't pay or get there though and GP just sniggered silently when I referred to it.

Yes, it's a pity NHS doesn't have this test; I'm forever reading about tests and procedures for common yet life-affecting conditions that the NHS doesn't have, or that NICE recommends but still, they aren't available.

At least we still have an NHS, although it's steadily being privatised. Goodness knows how anyone will get treatment in future.

[Hidden in reply to Frodo]

Why did you GP snigger?

[Frodo in reply to Hidden]

They often don't reply when they don't want to engage or answer a question. It's happened to me a lot. This particular GP didn't believe I had a serious issue, much less one which would require a specialised referral.

[Hidden in reply to Frodo]

It's easy to criticise GPs, but they genuinely make easy targets of themselves for criticism. They do a lot of harm by behaving like that and negating the lived reality of their patients. No one forgets how someone makes them feel, and unfortuantely GPs are very good at making people feel belittled and like they're being a problem. Might be good idea to change practice if you can.

[Frodo in reply to Hidden]

Thanks. I can't, really. It's actually better than others I've been to in the past, and ironically is joining forces with the one I was with before - which I left because at the time it was dreadful. There's just one other that I could go to but it's in the next county, and I don't know enough about it. One problem I've identified generally is in the record keeping, as you need that for continuity of care. Almost every time I've been blindsided, I've found the fault was in the accuracy of the records. And that may be down to antiquated or inadequate software and computer systems.

[eliz45]

Hi. I had the gene test for celiac and I do have DQ-2. I am 75 and am very thin now. I struggle to maintain my weight. I had 7 siblings and all of them are/were overweight. Up until about 5-10 years ago, I had no problem with eating, and I ate a very healthy diet. I was able to gain weight when I wanted, and had no real digestive issues. Then something changed. During that period I was under great stress and also contracted some viral or bacterial illness. After I recovered, I thought nothing of it. But there was a total change in my digestion and finally after much testing, I was told that I had celiac. So I guess my point is that you can have the gene, and it does not necessarily mean you have celiac disease. It can get turned on by things like infections, stress, etc. And although I had the gene, no one in my family seems to have it or seems to have "turned it on."If you have had the bloodwork done and it shows high levels of gluten antibodies, that basically is good enough to say that you need to stop eating gluten. The test is expensive, and what more did it tell me that I needed to know? If your blood tests are normal, maybe it is not celiac. Maybe you are allergic to wheat. I react to gluten but am not allergic to wheat according to my blood tests, which I find ironic.

PS I think I have read that you can have celiac without the gene, but it is very rare. I find that hard to believe. There is much that is still unknown about this whole thing. Good luck.

[Hidden in reply to eliz45]

Thank you. Sorry to hear you took a turn down hills also. Similar to you, not one in my family has this issue, but you are right on the stress impact on digestion. I think a lot of things are just a bit of a mystery for us, and only clear answer is to follow whatever dietary protocol works.