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Gene Testing Results

bincongo

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bincongo Contributor
bincongo
Posted

I am a Celiac and was diagnosed by biopsy. I never had gene testing done. My daughter just got her gene testing back and she is positive for the gene. Now I guess her next step is to have the antibody testing done. What I am interested in is whether she got the gene from only me or maybe her father also. Her father's mother had Lupus.

Her results are positive for DQ2. No DQ8. She has DQA1 0501 or 0505 and DQB1 0201 or 0202.

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ravenwoodglass Mentor
ravenwoodglass
Posted

The only way to tell who she got that particular gene from would be to test everyone. Also people can be celiac and have neither DQ2 or DQ8. I am a double DQ9 and am firmly diagnosed.

Mari Enthusiast
Mari
Posted

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).

bincongo Contributor
bincongo
Posted
  • Author

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).

I will have to contact my daughter to see if there was more information but I didn't think there was. She did a mouth swab test and sent it to Kimbell. I just have a feeling that she may have inherited problems from her father since he has Lupus on his side but I do know she could have gotten everything from me. My sister is also DQ2 positive but does not test positive for Celiac yet but she has other autoimmune diseases.

ravenwoodglass Mentor
ravenwoodglass
Posted

My sister is also DQ2 positive but does not test positive for Celiac yet but she has other autoimmune diseases.

Has your sister tried the diet despite the negative results? If not she may want to give it a shot. I also tested negative and had a lot of autoimmune disease that went into remission on the diet.

bincongo Contributor
bincongo
Posted
  • Author

Has your sister tried the diet despite the negative results? If not she may want to give it a shot. I also tested negative and had a lot of autoimmune disease that went into remission on the diet.

I have told my sister that she might feel better being gluten free with her other autoimmune diseases and her doctor said that too. She says she is partly gluten free in that she limits her gluten but not totally.

Judy3 Contributor
Judy3
Posted

From what I have studied about the genetics of the HLA DQ* genes which I have DQ2 and have been diagnosed as Celiac is that you get it from both parents. The genetic codes must match from each side to produce the genes. (I'm not a doctor just stating what I have researched on my own).

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Skylark Collaborator
Skylark
Posted

She has DQA1 0501 or 0505 and DQB1 0201 or 0202.

I don't understand. She should have a total of 4 alleles, two DQA1 and two DQB1. Did you mean to say "and" rather than "or"? I am also very confused by the results because DQA1*0501 and DQB1*0201 are linked, meaning they are close on the chromosome and tend to be inherited as a unit from one parent. Together they form DQ2.5, a gene that is strongly associated with celiac. It is also associated with juvenile onset diabetes, Sjogren's syndrome, and the linked DR3 is associated with lupus. The thing that is confusing is that the remaining DQA1*0505 and DQB1*0202 are not usually inherited together. Are you sure those are the exact results?

Skylark Collaborator
Skylark
Posted

From what I have studied about the genetics of the HLA DQ* genes which I have DQ2 and have been diagnosed as Celiac is that you get it from both parents. The genetic codes must match from each side to produce the genes. (I'm not a doctor just stating what I have researched on my own).

Not exactly. You can get it from either parent, or from both. If you are so-called "double DQ2" it means you got a copy from each parent. It's quite possible to get celiac with a gene from one parent, or as Ravenwoodglass likes to point out, no "celiac" genes at all.

ravenwoodglass Mentor
ravenwoodglass
Posted

Not exactly. You can get it from either parent, or from both. If you are so-called "double DQ2" it means you got a copy from each parent. It's quite possible to get celiac with a gene from one parent, or as Ravenwoodglass likes to point out, no "celiac" genes at all.

Yes celiac is neither recessive or dominant and does not require two copies of the gene to be present like some genetic disorders. You can be celiac with only one copy from one parent.

Yea I am rather a fanatic about folks not always needing the recognized genes. I guess I will never 'get over' my DD's diagnosis being recinded. I am also sooo very thankful they didn't do gene testing on me until long after I was diagnosed. If they had I likely wouldn't be here posting today.

nora-n Rookie
nora-n
Posted

Aboutthe weird results, I think I understand what happened.

They just tested for the presence of 05* and 02*.

The 02 in the beta chain may mean either DQ2,5 (which has 05* in the alpha chain) (and ther are two forms of DQ2,5, the cis and the trans, and the latter is made from DQ7,5 (shich has a 05* alpha chain) and DQ2,2)

or DQ2,2 which has 02 in the alpha chain. (but if one has another gene with a 05* alpha chain, like DQ7,5, they make up DQ2,5 in trans)

So the genes may be with this type of testing

either:

1.HLA DQ2,5 homozygous in cis (two of them) 2x 0501 in alpha, 0201 in beta

2.HLA DQ2,5 heterozygous in cis (just one copy) 0501 in alpha, 0201 in beta

3. HLA DQ2,5 in trans (just one copy possible) made up from DQ7 and DQ2,2.

DQ7,5 is 0505 in alpha, 0301 in beta

DQ2,2 is 0201 or 0301 in alpha, 0202 in beta .

So this is just a quick way of testing for the presence of DQ2,5 in either cis or trans.

bincongo Contributor
bincongo
Posted
  • Author

Good Gosh, I don't know how you guys figure these things out. I am going to send all your comments to my daughter. I guess the basic question I have is does anyone know if she could have inherited a gene from her father. I know I am Celiac and my sister has the DQ2 gene but is not yet Celiac. I guess I am hoping my husband will get testing if I had something to tell him along those lines.

Skylark Collaborator
Skylark
Posted

That makes sense, Nora.

Bincongo, the celiac genes came from either you, her father, or possibly both of you combined (half a celiac gene from one of you, half from her father). There is no way to tell who contributed which genes. If I were you I'd go really simple. Tell your husband that the way the test was done, it shows that your daughter has at least one celiac gene and possibly two. He has at least a 50% chance of having a celiac gene and needs to be tested.

(This is not strictly accurate but it's actually almost impossible to calculate the probability of him having a celiac gene from those particular testing results. ;) )

CMCM Rising Star
CMCM
Posted

Recently Wikipedia has added information about the HLA-DQ . Look at HLA-DQ for an overview then look at HLA-DQ1 and HLA-DQ2.

Did she have the molecular analysis of the DNA alleles or did she have the serology test for the celiac antibody binding site on the antigen receptor cell? Could you write down the results as shown exactly on the report. What you wrote seems to shows one DQA result and one DQB result instead of 2 results - the other set of DQA and DQB are missing.

We inherit one DQA (allele) and one DQB (allele) from each parent. So if both the A allele and the B allele were tested then there should be 4 results. Some labs test only the two HLA DQ B alleles (Enterolab.com).

Can anyone explain more about the above? Celiac disease runs thru my family. My mom has double celiac genes. Many in my family got tested via Enterolab. We want to find out what my father's 2nd gene was (from my test we know one of them...DQ1 0604, which is a gluten sensitivity related gene), and my sister got a gene test thru Kaiser, which would hopefully reveal what our dad's 2nd gene was. She said the results related to her by Kaiser were stated this:

I am in DQ2

A105

B102

Both of these could have come from mom too I was told! 40% of people with this profile are prone to celiac.

What???????

Our mom got tested at Enterolab, where she learned she has DQ2 0201 + 0201 (two identical celiac genes, one from her mother, the other from her father). I can't figure out how this relates to my sister's oddly stated gene results mentioned above. Her statement that both of these could have come from our mom...that doesn't make sense to me as one is from the father and one from the mother. Through our mom's testing,, we KNOW all the kids got one of the 0201 genes. Since our mom has double identical genes, how could one or the other have come from her, having two identical genes she has only one possibility to give to us all. And which of those above genes equate to our mom's DQ2 0201 gene? Is this result saying our Dad's 2nd gene was also a DQ2 celiac gene, just a different type than our mom's?

Any ideas/input?

nora-n Rookie
nora-n
Posted

This means alpha chain 05* and beta chain 02*, same answer as mina above, this is DQ2,5 cis or trans, and they did not test all the way, just enough to tell if there was some kind of DQ2,5.

So now that you know your mother

Flor Apprentice
Flor
Posted

Hi everyone. Thank goodness some of you seem to really understand this gene stuff. I am barely grasping.

My Enterolab results came in today and I have

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0603

Serologic equivalent: HLA-DQ 2,1 (Subtype 2,6)

I understand this as having the DQ2 celiac gene and the DQ6 gluten sensitivity gene. Yes?

Is there anywhere that these various gene combinations are talked about in terms of symptoms, outcomes or just explained with respect to the disease process?

I've picked up little snippets, like DQ6 is evidently also protective AGAINST some auto-immune diseases. So is it "helpful" in any way to have the DQ6 if you're going to have the DQ2?

Anyway, I'm interested in this stuff, I've read the wikipedia entries, but I'd love to know if there are sources where this gets explained more thoroughly with respect to celiac disease.

Also, I'm going to get my six year-old son tested because presumably he has either the DQ2 or DQ6 from me and something from his dad. This is what you all would do right? And then it would be helpful to have some kind of guidance about whether I need to get him off gluten right away or whether we don't need to panic about that. I'm just trying to figure out how to hold all this.

I'd love to hear reactions from anyone about how you would respond if say your child had two gluten sensitivity genes (which seems most likely for people of European descent) but no celiac genes? And if your child did have the DQ2, would you get him off gluten ASAP and proceed AS IF he had active celiac disease?

It's very clear based on the trajectory of my symptoms and my reaction to going gluten free that I have celiac disease even though I haven't done the biopsy. I had the full line-up of risk factors that are associated with turning those genes "on" leading up to becoming chronically symptomatic.

I don't understand the B and A allele thing. Enterolab evidently only tests the B line? Is this leaving out key information that would be helpful?

Thanks!

nora-n Rookie
nora-n
Posted

The best list about other diseases and conditions I find is on the wikipedia page for HLA DR.

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