Gene Test Results

[mom2lucas]

Hi! I have just received my gene testing results from Enterolab, and quite honestly, I'm at odds on what to do next. My son was diagnosed a celiac after negative blood tests and a positive biopsy. He has improved greatly on the gluten-free diet, so there really is no doubt about his diagnosis. However, I decided to go for the genetic tests just to see where it came from since my blood tests for celiac were all negative. And this is what I got:

Gluten Sensitivity Gene Test

HLA-DQB1 Molecular analysis, Allele 1 0202

HLA-DQB1 Molecular analysis, Allele 2 0202

Serologic equivalent: HLA-DQ 2,2 (Subtype 2,2)

Interpretation Of HLA-DQ Testing: Although you do not possess the main HLA-DQB1 genes predisposing to celiac sprue (HLA-DQB1*0201 or HLA-DQB1*0302), HLA gene analysis reveals that you have two copies of a gene that predisposes to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having two copies of a gluten sensitive gene means that each of your parents and all of your children (if you have them) will possess at least one copy of the gene. Two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity may be more severe.

I'd be very grateful if you could help me decipher this: what's the difference between celiac sprue and gluten sensitivity? My son's gastro ped says there's no difference, and if he did get this gluten sensitivity gene from me, why does he have celiac? I don't show any of the classic issues with celiac, so I don't know if I should ask for a biopsy... I do have gallstones and psoriasis, but nothing else that could be linked to celiac. Besides, I wouldn't want to go on a gluten-free diet unless I really needed to, because it's so hard to give up on bread and pasta when you do have a medical reason, let alone when you don't. So I'm like a fool standing in the middle of a bridge wondering which way to go. Any thoughts would be greatly appreciated. Thanks!

[ShayFL]

Genetic testing is not a be all end all. It can only show a propensity toward something. It cannot show who WILL get something and who WONT. Some researchers believe that DQ2 and DQ8 are not the only "Celiac Genes" and I suspect they are right. The genes you have sit right next to the DQ2 genes for Celiac. They are sister genes if you will. Gluten sensitivity can cause damage to the intestines as well even with NEG bloodwork.

Did you son have genetic testing for Celiac genes??? He should.

Perhaps his father carries a Celiac gene. Is it possible to get Dad tested??

As for you, you have to decide if your symptoms are bad enough to go gluten-free. And understand that if you are gluten sensitive as the Enterolab results suggest, then you can be doing untold damage to your body by continuing to eat gluten. Perhaps down the road you will be addressing much more serious symptoms (like me). Only you can decide what to do with your health.

I have 2 gluten sensitivity genes according to Enterolab and no Celiac genes. I even did Kimball labs as well because they finish the spectrum of genetic testing combined with Enterolab. My symptoms started out mild.......loose BM's everyday...fatigue.....depression.....eventually migraines......neuropathy.....and ataxia....they have progressed. Mine are neurological now (they didnt start that way). I wish I had quite eating gluten years ago before my thyroid got damaged....and my nerves......

You have gallstones and psoriasis......many are surprised at other "symptoms" that they did not even realized they had (that disappear after going gluten-free).

[gfpaperdoll]

welcome to the world of me & my family - double DQ1.

First most people that have a biopsy do not get a gene test. Second if they do get a gene test they test thru a lab that only tests for DQ2 & DQ8, you will never know if you have a DQ1 or DQ3 or any of the other ones.

When I tested at Enterolab I think they were only one of two labs in the U.S. that were testing for something other than DQ2 & DQ8. My sister is double DQ 1 & tested positive thru blood test. although they do also test for DQ2 & DQ8 in addition to the gluten intolerance genes. A friend of mine got the Enterolab testing after having a positive biopsy & she also has osteoporosis & another autoimmune illness.

Both of them are DQ1-0501, which they now say is part of a DQ2 gene.

The point is that the medical community are just now trying to figure this stuff out - they by no means have the whole picture - just ask those of us that are double DQ1 & have suffered a lifetime of illnesses - no two cases alike. It is a difficult puzzle to crack until you see the pattern. Then it is easy. take my 10 YO granddaughter - tested negative thru Enterolab, has two DQ1 genes - I knew she had a problem with gluten, asthma, walking pneumonia - twice, ear infections, breathing treatments, constipation, colds, hives, itching hives, cavities, personality mood swings, & lately she gained some weight & lost ALL the enamel on her teeth, family history of food allergies, not counting her own food allergies. But is there a pedi or dentist that will diagnose her - NO.

I think that you might want to read some books like Dangerous Grains, & Celiac Disease the Hidden Epidemic.

also get the gene test for yourself. & just know that some damage cannot be fixed once it occurs.

oh & yes, some of us think that if you have two copies of the same gene - you are in for a worse time, healthwise.

[mom2lucas]

welcome to the world of me & my family - double DQ1.

First most people that have a biopsy do not get a gene test. Second if they do get a gene test they test thru a lab that only tests for DQ2 & DQ8, you will never know if you have a DQ1 or DQ3 or any of the other ones.

When I tested at Enterolab I think they were only one of two labs in the U.S. that were testing for something other than DQ2 & DQ8. My sister is double DQ 1 & tested positive thru blood test. although they do also test for DQ2 & DQ8 in addition to the gluten intolerance genes. A friend of mine got the Enterolab testing after having a positive biopsy & she also has osteoporosis & another autoimmune illness.

Both of them are DQ1-0501, which they now say is part of a DQ2 gene.

The point is that the medical community are just now trying to figure this stuff out - they by no means have the whole picture - just ask those of us that are double DQ1 & have suffered a lifetime of illnesses - no two cases alike. It is a difficult puzzle to crack until you see the pattern. Then it is easy. take my 10 YO granddaughter - tested negative thru Enterolab, has two DQ1 genes - I knew she had a problem with gluten, asthma, walking pneumonia - twice, ear infections, breathing treatments, constipation, colds, hives, itching hives, cavities, personality mood swings, & lately she gained some weight & lost ALL the enamel on her teeth, family history of food allergies, not counting her own food allergies. But is there a pedi or dentist that will diagnose her - NO.

I think that you might want to read some books like Dangerous Grains, & Celiac Disease the Hidden Epidemic.

also get the gene test for yourself. & just know that some damage cannot be fixed once it occurs.

oh & yes, some of us think that if you have two copies of the same gene - you are in for a worse time, healthwise.

Thanks for your answers! I probably didn't make it very clear, sorry, but the gene testing was done on me, I have these two genes, I don't know about my son because since he had such a good answer to the gluten-free diet, we didn't think he needed the test. And my husband doesn't really have any symptoms, he's very healthy so we didn't think he was the "culprit". So, from both your answers, I cannot have celiac, but still can get damage to the intestine? Anf if my son has Celiac disease, it should come from his father? This genetic stuff is so complicated...

[darlindeb25]

So, from both your answers, I cannot have celiac, but still can get damage to the intestine? Anf if my son has Celiac disease, it should come from his father? This genetic stuff is so complicated...

I do not agree. I do agree with gfpaperdoll, the scientist do not know yet, they will make a statement, then in time change that statement. Just this last spring, a group of scientists announced they found 7 more genes that they feel may play a part in celiac disease.

I too, have double DQ1 genes and I have been told, that means DOUBLE TROUBLE!!! It also means, I shared these genes with each of my 5 kids. No doctor will ever convince me that I do not have celiac disease. There is no test they can do on me now to prove it one way or the other. I have been gluten-free for 8 yrs and a gluten challenge is out of the question! I was glutened by a medication in January, and I was ill for 3 months...nothing could make me eat gluten for a test.

Dr. Hadjivassilou believes that 70% of celiacs are DQ2, 9% are DQ8, 20% are DQ1, and the other 1% is undecided. I know how sick I was, I know my list of intolerance's have grown too such an extent, that now I can list the foods I CAN have much quicker than the foods I can't. DQ1's are also the group associated with neuropathy. I have neuropathy, headaches, sleep apnea, tinnitus--I have 2 sons diagnosed with sleep apnea...my sons have GERD, one is hypothyroid, has high blood pressure, liver #'s are off, magnesium is very low, anxiety...his doctors can't figure out what is going on with him...he also has gained over 80# in the last year. He is going to tell his doctors about my double DQ1 genes and hope they will finally look at the celiac connection.

Genes are very confusing.

[ravenwoodglass]

Please don't go off just the gene tests. I was diagnosed about 5 years before I had gene testing done. It was clear from my recovery and the remission of my autoimmune disorders that I was a celiac. It took me a long time to get to that point and a lot of serious damage because I don't show up on blood tests so was thought not to have celiac. I was a different person within 6 months of diagnosis and that did at least get others in my family to test their blood, all were positive on blood panels but MUCH less seriously impacted.

When I decided to test my genes it was because my DD, who had a postive blood and endo and a good resolution of her health problems gluten-free, had been tested by a 'celiac specialist' in Boston. He did testing and told her there was no way she could be celiac because she doesn't have the genes. She is back on gluten and attributing all symptoms to stress from her graduate workload. I worry but there is nothing I can do. After all the gene tests 'proved' she could never develop the disease. Who am I to contradict the specialist?

I carry a double copy of DQ9. That is considered a very rare gene in the US white population and is associated here with an oriental genetic background and RA. If I had been tested while I was still very ill I would have been deemed to have RA and would either still be existing on ineffective and dangerous meds or the more likely prospect considering how ill I was I would have died by now.

Interestingly the DQ9 gene in a couple of other countries IS a recognized celiac gene, in another it is a gene for a rare form of adult onset type 1 diabetes, in another it is considered to be responsible for excema and psoriasis.

Gene testing is in it's infancy, we can not rely on it for absolute diagnosis or elimination of the gluten issue possibility. I am sooooo very thankful that I was in complete remission and firmly diagnosed BEFORE I had the gene testing done.

[mom2lucas]

Hi! I have just received my gene testing results from Enterolab, and quite honestly, I'm at odds on what to do next. My son was diagnosed a celiac after negative blood tests and a positive biopsy. He has improved greatly on the gluten-free diet, so there really is no doubt about his diagnosis. However, I decided to go for the genetic tests just to see where it came from since my blood tests for celiac were all negative. And this is what I got:

Gluten Sensitivity Gene Test

HLA-DQB1 Molecular analysis, Allele 1 0202

HLA-DQB1 Molecular analysis, Allele 2 0202

Serologic equivalent: HLA-DQ 2,2 (Subtype 2,2)

Interpretation Of HLA-DQ Testing: Although you do not possess the main HLA-DQB1 genes predisposing to celiac sprue (HLA-DQB1*0201 or HLA-DQB1*0302), HLA gene analysis reveals that you have two copies of a gene that predisposes to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having two copies of a gluten sensitive gene means that each of your parents and all of your children (if you have them) will possess at least one copy of the gene. Two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity may be more severe.

I'd be very grateful if you could help me decipher this: what's the difference between celiac sprue and gluten sensitivity? My son's gastro ped says there's no difference, and if he did get this gluten sensitivity gene from me, why does he have celiac? I don't show any of the classic issues with celiac, so I don't know if I should ask for a biopsy... I do have gallstones and psoriasis, but nothing else that could be linked to celiac. Besides, I wouldn't want to go on a gluten-free diet unless I really needed to, because it's so hard to give up on bread and pasta when you do have a medical reason, let alone when you don't. So I'm like a fool standing in the middle of a bridge wondering which way to go. Any thoughts would be greatly appreciated. Thanks!

Thanks for all your answers. I got some clarification from Enterolab saying that with my genes I can't have celaic disease, just gluten sensitivity, although I am yet to find out what's the difference. so it looks like, as some of you said, if my son has celiac then he got it from dad, so he's next on the list to be tested.

[Jestgar]

Thanks for all your answers. I got some clarification from Enterolab saying that with my genes I can't have celaic disease, just gluten sensitivity, although I am yet to find out what's the difference. so it looks like, as some of you said, if my son has celiac then he got it from dad, so he's next on the list to be tested.

The "Celiac genes" are known to code for a protein that can accidentally learn to recognize parts of your intestine as a foreign invader, and start attacking it. Does this mean this will always happen if you have these genes? No. Does this mean that other proteins can't accidentally learn the same thing? No.

The gene test is interesting, but not informative.

[Ursa Major]

Thanks for all your answers. I got some clarification from Enterolab saying that with my genes I can't have celaic disease, just gluten sensitivity, although I am yet to find out what's the difference. so it looks like, as some of you said, if my son has celiac then he got it from dad, so he's next on the list to be tested.

It is simply NOT true that somebody without the 'official' celiac disease genes can't have celiac disease. There are people diagnosed with positive blood tests and positive biopsy, who recovered from being very ill on the gluten-free diet. As has been said before, in certain other countries they recognize many more genes as official celiac disease genes. North America is behind the times when it comes to celiac disease.

So, it is entirely possible that you do have celiac disease after all. But it certainly can't hurt to have your husband tested.

[darlindeb25]

But it certainly can't hurt to have your husband tested.

It is very possible for your husband to have "celiac genes" and not be celiac too. Some people are carriers, some never have their gluten intolerance triggered. You can be DQ8 or DQ2, even DQ1 and not be sick. Also, you and your husband both may have gluten intolerant genes. I have double DQ1 genes, which means both of my parents have to have at least one DQ1 gene. My dad is gluten intolerant, but not my mom!

[fedora]

I have the DQ2.2 gene that you have. I did tons of genetic research on celiac. Here's what I learned

1 - lots of people with celiac have not been genetically tested

2- celiac is definately possible (although rare) in people without DQ2 or DQ8

3-most people with celiac WHO HAVE HAD GENE TESTING have DQ2(reallyDQ2.5) or DQ8. But not all. Of the small percentage who have celiac without these genes, most have DQ2.2(which is what you have mom2lucas). The one study I found was that 4% of the celiacs had DQ2.2. DQ2.2 has been proven to cause gluten intolerance but usually does not pass the threshold to cause celiac BUT occasionally does. I feel(my opinion here) that over the course of many years of being gluten intolerant that celiac can occur to these individuals.

4- DQ2.2(what you have) is half of the celiac gene DQ2.5. The other half are certain DQ7 genes. SO your son got DQ2.2 from you and if he got a certain DQ7 gene from his dad, then he would have the whole celiac gene. Your husband would not need to have a celiac gene then.

If you have any questions, let me know. I do not have the main celiac genes. I have DQ2 subtype 2(DQ2.2). I am definately gluten intolerant. I went off gluten before knowing about the tests. My dietary reactions have proven I am gluten intolerant. I had digestive issues, moodiness, emotional PMS, muscle pain, skin rashes, anemia, low blood pressure, brain fog, naseau, belly pain, and inablility to think or talk clearly at times. If I am not celiac then I am severly gluten intolerant.

take care

[Jestgar]

I have the DQ2.2 gene that you have. I did tons of genetic research on celiac. Here's what I learned

1 - lots of people with celiac have not been genetically tested

2- celiac is definately possible (although rare) in people without DQ2 or DQ8

3-most people with celiac WHO HAVE HAD GENE TESTING have DQ2(reallyDQ2.5) or DQ8. But not all. Of the small percentage who have celiac without these genes, most have DQ2.2(which is what you have mom2lucas). The one study I found was that 4% of the celiacs had DQ2.2. DQ2.2 has been proven to cause gluten intolerance but usually does not pass the threshold to cause celiac BUT occasionally does. I feel(my opinion here) that over the course of many years of being gluten intolerant that celiac can occur to these individuals.

4- DQ2.2(what you have) is half of the celiac gene DQ2.5. The other half are certain DQ7 genes. SO your son got DQ2.2 from you and if he got a certain DQ7 gene from his dad, then he would have the whole celiac gene. Your husband would not need to have a celiac gene then.

If you have any questions, let me know. I do not have the main celiac genes. I have DQ2 subtype 2(DQ2.2). I am definately gluten intolerant. I went off gluten before knowing about the tests. My dietary reactions have proven I am gluten intolerant. I had digestive issues, moodiness, emotional PMS, muscle pain, skin rashes, anemia, low blood pressure, brain fog, naseau, belly pain, and inablility to think or talk clearly at times. If I am not celiac then I am severly gluten intolerant.

take care

Do you have references for this statement?

[fedora]

when doing research I looked at published science articles and experiments.

This article below explained the experiments that studied the difference in DQ2.2 and DQ2.5. My issue with this is it was a study in a lab, not a study with humans over years. I copied part of the conclusion and posted it here. It states how DQ2.2 does have a reaction to gluten, but a weaker one. That sometimes the threshold is passed to cause celiac in DQ2.2 individuals.

Open Original Shared Link

The concept of threshold introduced by Vader et al. (16) also seems relevant to explain why DQ2.2, in general, is not associated with celiac disease. They suggested that there exists a threshold, governed by the number of gluten epitopes and the magnitude of the T cell response elicited by each epitope, that needs to be overcome to produce a pathological immune response to gluten. In the case of DQ2.2 individuals, the T cell response to gluten is usually insufficient to pass this threshold. Our and previous data demonstrate that the subtle differences in binding specificity between the DQ2.2 and DQ2.5 molecules mainly cause quantitative differences rather than an all-or-none effect on gluten peptide presentation. Although we found that most T cell epitopes (including the

[mom2lucas]

I have the DQ2.2 gene that you have. I did tons of genetic research on celiac. Here's what I learned

1 - lots of people with celiac have not been genetically tested

2- celiac is definately possible (although rare) in people without DQ2 or DQ8

3-most people with celiac WHO HAVE HAD GENE TESTING have DQ2(reallyDQ2.5) or DQ8. But not all. Of the small percentage who have celiac without these genes, most have DQ2.2(which is what you have mom2lucas). The one study I found was that 4% of the celiacs had DQ2.2. DQ2.2 has been proven to cause gluten intolerance but usually does not pass the threshold to cause celiac BUT occasionally does. I feel(my opinion here) that over the course of many years of being gluten intolerant that celiac can occur to these individuals.

4- DQ2.2(what you have) is half of the celiac gene DQ2.5. The other half are certain DQ7 genes. SO your son got DQ2.2 from you and if he got a certain DQ7 gene from his dad, then he would have the whole celiac gene. Your husband would not need to have a celiac gene then.

If you have any questions, let me know. I do not have the main celiac genes. I have DQ2 subtype 2(DQ2.2). I am definately gluten intolerant. I went off gluten before knowing about the tests. My dietary reactions have proven I am gluten intolerant. I had digestive issues, moodiness, emotional PMS, muscle pain, skin rashes, anemia, low blood pressure, brain fog, naseau, belly pain, and inablility to think or talk clearly at times. If I am not celiac then I am severly gluten intolerant.

take care

Thanks fedora, that was very useful information, and it does shed some light on my situation... I am going to check for allergies with an allergologist, because I do get some eczema on my face once in awhile that I think might be an allergic reaction to some kind of food (probably wheat?), just out of curiosity, and then try the gluten-free diet and see how I feel.