Gene Testing Totally Confused

[sandpiper]

Hi to all,

Please help me out here. Finally got the results back for the genetic from prometheus, which was the celiac plus panel.

It reads that it did not show the main two genes the DQ2 and DQ8 to be detected and only in the <0.1X risk to be extremely low. It did result back with the HLA DQA1 *05 Alleles detected.

It also reads with a breakdown of the over all risks for patient carrying the DQ genotype, which if you let me know I will post these as well.

The labs interpretation said: Results do not exclude a diagnosis of celiac disease.

I was asking the doctor to run these tests for my family and their possible chances of having the disease, if I showed the markers. I have been gluten free for four years and know how I feel when I get any gluten in by mistake, and I have to agree there is no turning back once you have felt the difference ( like those terrible migranes ).

Wait to hear back from you all and your help is ALWAYS appreciated!

Best,

Susie

[lizard00]

Prometheus did my testing as well. And I am in the exact opposite place as you... 31X risk.

Either way, it's true, it doesn't exclude it. There are other genes recognized with Celiac. There are are few people on here who don't possess either of the two, and yet are diagnosed Celiacs.

OR... you could have non-Celiac gluten intolerance. In which case, you are sensitive to gluten, but without all the yucky autoimmune side effects. But, the treatment is the same. And I am a firm believer that if something makes you feel sick, don't eat it. It's probably doing something bad to you somewhere.

[climbmtwhitney]

Hi to all,

Please help me out here. Finally got the results back for the genetic from prometheus, which was the celiac plus panel.

It reads that it did not show the main two genes the DQ2 and DQ8 to be detected and only in the <0.1X risk to be extremely low. It did result back with the HLA DQA1 *05 Alleles detected.

It also reads with a breakdown of the over all risks for patient carrying the DQ genotype, which if you let me know I will post these as well.

The labs interpretation said: Results do not exclude a diagnosis of celiac disease.

I was asking the doctor to run these tests for my family and their possible chances of having the disease, if I showed the markers. I have been gluten free for four years and know how I feel when I get any gluten in by mistake, and I have to agree there is no turning back once you have felt the difference ( like those terrible migranes ).

Wait to hear back from you all and your help is ALWAYS appreciated!

Best,

Susie

[nora-n]

We know from the forums that DQ1 can b e extremely sensitive to glutetn, and epecially have neurological issues from gluten, just like you.

There are even a couple of forums where those patients are.

Now they even have found the antibody for the neuro-gluten conection, it is the ttg6 antibody.

DH patients have the ttg3 antibody, and the typical gut issue celiacs have the tg2 antibodies.

The gastro world only concentrates on the minor group of DDQ2 and 8 gstro celiacs.....

What other gene do you have? Or do you have double DQ5?

In case of double DQ5 (which is a subgroup of DQ1) the risk is even greater.

If you search the web and pubmed for Hadjivassiliou, you find some answers, and that about 20% of his gluen ataxia patients have DQ1.

nora

[sandpiper]

Prometheus did my testing as well. And I am in the exact opposite place as you... 31X risk.

Either way, it's true, it doesn't exclude it. There are other genes recognized with Celiac. There are are few people on here who don't possess either of the two, and yet are diagnosed Celiacs.

OR... you could have non-Celiac gluten intolerance. In which case, you are sensitive to gluten, but without all the yucky autoimmune side effects. But, the treatment is the same. And I am a firm believer that if something makes you feel sick, don't eat it. It's probably doing something bad to you somewhere.

Thanks for your return. I am wondering what are the other genes you mentioned that are recognized with the disease? I thought that I had read that there are around seven different genes, is this true, and how would you find out more information about them?

Yes, you are right about the autoimmune issues that take place with those type of diseases, and how it plays out with your daily living. I have graves disease and fibro and endometriosis and they have impacted my life and it's quailty.

Best,

Susie

[sandpiper]

We know from the forums that DQ1 can b e extremely sensitive to glutetn, and epecially have neurological issues from gluten, just like you.

There are even a couple of forums where those patients are.

Now they even have found the antibody for the neuro-gluten conection, it is the ttg6 antibody.

DH patients have the ttg3 antibody, and the typical gut issue celiacs have the tg2 antibodies.

The gastro world only concentrates on the minor group of DDQ2 and 8 gstro celiacs.....

What other gene do you have? Or do you have double DQ5?

In case of double DQ5 (which is a subgroup of DQ1) the risk is even greater.

If you search the web and pubmed for Hadjivassiliou, you find some answers, and that about 20% of his gluen ataxia patients have DQ1.

nora

Hi Nora,

Thanks for your help, regarding the remaining test and results, it showed as follows : DQ2 Homozygous 31X relative risk, extremely high DQ2/other high risk gene 16X very high risk DQ2/DQ8 14X very high risk, DQ8 Homozygous 10X high risk, DQ2 heterozygous 10X high risk, DQ8 heterozygous 2X moderate risk, DQ2/other low risk gene <1X low risk, DQ2-, DQ8- <0.1X extremely low risk.

Hope that this makes more sense to you than it did for me. Again these are the only tests that they ran. Who would be able to run a more detailed panel, I had a very difficult time getting this done by the request of myself to my doctor, who does not have any backgroung of studies in the disease, but atleast to be covered by my insurance company she complied.

Best,

Susie

[lizard00]

Thanks for your return. I am wondering what are the other genes you mentioned that are recognized with the disease? I thought that I had read that there are around seven different genes, is this true, and how would you find out more information about them?

Yes, you are right about the autoimmune issues that take place with those type of diseases, and how it plays out with your daily living. I have graves disease and fibro and endometriosis and they have impacted my life and it's quailty.

Best,

Susie

Honestly, genetics is not my strength. I know that someone here is DQ3 and dx'd Celiac. And many here are DQ1 (as Nora pointed out). But, that's about as specific as I know. I've read many articles that indicate at least nine genes total that are associated with Celiac Disease, but my brain has a hard time retaining that info. Start talking about alpha and beta chains and I get the deer in the headlights look.

I did some searches on google: celiac genes; this will point you to some articles about the recent associations of the other seven.

At this point, any Celiac testing will be a waste for you, since you've been gluten-free for 4 years. Was the doc that ran this a GI or a GP? If it was your GP, maybe you could be referred to a GI who would at least be able to keep up with you.

[climbmtwhitney]

It did result back with the HLA DQA1 *05 Alleles detected.

The labs interpretation said: Results do not exclude a diagnosis of celiac disease.

Hi Susie,

I screwed up my post a few days ago. Sorry. Anyway, my daughter and I both have the DQA1 *05 allele (half of DQ2) and are both diagnosed Celiacs. We used Kimball Genetics. They report both the beta and alpha portions of the genes (since each gene has an alpha portion and a beta portion). From what I understand, the most common Celiac genetic markers are the DQ2 molecule or DQ8. A very small percentage (like us) carry 1/2 of the DQ2 molecule on the ALPHA chain ONLY or DQA1 *05. Individuals with only half of the DQ2 heterodimer (a.k.a. us) have a much lower risk for Celiac than those with a full DQ2 heterodimer. Kimball states:

"Celiac disease is strongly associated with the human leukocyte antigen (HLA) molecule DQ2 (encoded by alleles DQA1 *0501 or *0505 -PLUS- DQB1 *0201 or *0202) and DQ8 (encoded in part by DQB1 *0302). Individuals with the DQA1 sequence variant (*0501 or *0505) -OR- the DQB1 sequence variant (*0201 or *0202) but NOT both (i.e. half the DQ2 heterodimer) have a much lower risk for Celiac than those with have DQ2 (i.e. the full heterodimer)." It's a much lower risk, but it is a risk none the less. That's why your lab said that the "results do NOT exclude a diagnosis of Celiac."

I actually first did the genetic testing with Enterolab. They only report the beta portions of Celiac genes since that is FAR more common. But, when things didn't add up, I went to Kimball. And, surprise, they supported our diagnosis.

Hope this helps a little bit. I did a lot of reading to try and understand this gene thing. So confusing, huh?

Best,

Sonya

[nora-n]

Here about the half the DQ2 gene: Open Original Shared Link (DQA1 is the alpha chain)

[nora-n]

If you want to study more about the celiac genes, (they are only responsible for half of the celiac thing, there is also the myo9b thing, and tnf alpha, a cytokine thing, and some more stuff) go to wikipedia and serach for the DQ page.

Now there are 9 DQ types, but DQ1 includes DQ5 and DQ6, and DQ3 includes DQ7,8and 9.

There are officcially diagnosed DQ6 and 7 celiacs, and DQ9 celiacs according to Pubmed.

Plus all the half DQ2 gene people with celiac.

Plus all the DQ1 gluten ataxia patients, but they often just have neurological issues, and they found gluten antibodies in the neurons, and Ttg6 antibodies.

Also, check out teh wiki pages on DR, and on DQ2, and the other DQ types. There is as good as nothing on wiki about the gluten and neuro connection. See also www.ataxiaalternatives.com .

Forums for those with neuro issues from gluten:

Open Original Shared Link

Open Original Shared Link

There are several DQ1 there.

nora

[sandpiper]

Honestly, genetics is not my strength. I know that someone here is DQ3 and dx'd Celiac. And many here are DQ1 (as Nora pointed out). But, that's about as specific as I know. I've read many articles that indicate at least nine genes total that are associated with Celiac Disease, but my brain has a hard time retaining that info. Start talking about alpha and beta chains and I get the deer in the headlights look.

I did some searches on google: celiac genes; this will point you to some articles about the recent associations of the other seven.

At this point, any Celiac testing will be a waste for you, since you've been gluten-free for 4 years. Was the doc that ran this a GI or a GP? If it was your GP, maybe you could be referred to a GI who would at least be able to keep up with you.

Sorry that this has taken me longer to respond back than I would have liked. Been under the weather.

I love your "deer in the headlights look" remark, I really can "get" that one, as I often have the duh look with all of this, and trying to keep it all straight and in my head is just about too much for me, but I do love the learning atleast trying to.

Thanks for your help and I am looking into this with all of your help here. My doctor is an internist, and I have not seen a specialist, you are right she was in less informed than myself, as she ran the wrong tests first.

Take care and thanks again,

Susie

[sandpiper]

If you want to study more about the celiac genes, (they are only responsible for half of the celiac thing, there is also the myo9b thing, and tnf alpha, a cytokine thing, and some more stuff) go to wikipedia and serach for the DQ page.

Now there are 9 DQ types, but DQ1 includes DQ5 and DQ6, and DQ3 includes DQ7,8and 9.

There are officcially diagnosed DQ6 and 7 celiacs, and DQ9 celiacs according to Pubmed.

Plus all the half DQ2 gene people with celiac.

Plus all the DQ1 gluten ataxia patients, but they often just have neurological issues, and they found gluten antibodies in the neurons, and Ttg6 antibodies.

Also, check out teh wiki pages on DR, and on DQ2, and the other DQ types. There is as good as nothing on wiki about the gluten and neuro connection. See also www.ataxiaalternatives.com .

Forums for those with neuro issues from gluten:

Open Original Shared Link

Open Original Shared Link

There are several DQ1 there.

Nora,

Thanks so much for the information and the interesting reading, this is heavy stuff, but it did help me to get a better picture.

Best,

Susie

[sandpiper]

Hi Susie,

I screwed up my post a few days ago. Sorry. Anyway, my daughter and I both have the DQA1 *05 allele (half of DQ2) and are both diagnosed Celiacs. We used Kimball Genetics. They report both the beta and alpha portions of the genes (since each gene has an alpha portion and a beta portion). From what I understand, the most common Celiac genetic markers are the DQ2 molecule or DQ8. A very small percentage (like us) carry 1/2 of the DQ2 molecule on the ALPHA chain ONLY or DQA1 *05. Individuals with only half of the DQ2 heterodimer (a.k.a. us) have a much lower risk for Celiac than those with a full DQ2 heterodimer. Kimball states:

"Celiac disease is strongly associated with the human leukocyte antigen (HLA) molecule DQ2 (encoded by alleles DQA1 *0501 or *0505 -PLUS- DQB1 *0201 or *0202) and DQ8 (encoded in part by DQB1 *0302). Individuals with the DQA1 sequence variant (*0501 or *0505) -OR- the DQB1 sequence variant (*0201 or *0202) but NOT both (i.e. half the DQ2 heterodimer) have a much lower risk for Celiac than those with have DQ2 (i.e. the full heterodimer)." It's a much lower risk, but it is a risk none the less. That's why your lab said that the "results do NOT exclude a diagnosis of Celiac."

I actually first did the genetic testing with Enterolab. They only report the beta portions of Celiac genes since that is FAR more common. But, when things didn't add up, I went to Kimball. And, surprise, they supported our diagnosis.

Hope this helps a little bit. I did a lot of reading to try and understand this gene thing. So confusing, huh?

Best,

Sonya

Hi Sonya,

Well I can relate to your post, as I was just finishing my posts ( to all ) this morning my computer crashed. Everything is okay now, but well you know I just can't remember word for word what I wrote, sorry.

I will try again..... first thank you so much for your post and you and your daughters experience with the genetic part of testing and learning. It is great to hear that you did not take the Enterolab's report and end there and have more unanswered questions that would have had you wondering. I did want to ask you how they finally dx you and your daughter?

Pretty interesting with the DQ2 and us having the 1/2 version and not excluding us with the possible chances of having or getting the disease. I have often thought that my body was trying to tell me something was a miss, and I quess when you start with the immune system and breaking it down with certain foods it begins a downward spiral of other autoimmune diseases that might not have taken ahold of your body and it's effect down to the celluar level. We can I quess only try to help others (hopefully our family to start ) with what we have learned on our own personal journeys.

Do you and you daughter have any other autoimmune diseases? Or did you have anything that you think would have been a certain trigger for you? Sorry, my mind is going on here.

Glad to hear that you and your daughter and others here are starting to heal.

Best to you,

Susie

[nora-n]

sonya, what did enterolab report (kimball found the half DQ2, the *05 in he alpha chain) ?

we have had one case here where kimball did not find the DQ8, but enterolab did.

It goes both ways, sometimes enterolab is better, sometimes kimball.

nora