Tests Are In: I'm Utterly Confused. Help?

[pricklypear1971]

Ok,

Got the genetic and other tests back. I'm really confused by the genetic tests. Help please???

HLA DQ allelles detected:

DQA1*02;01, 05:01

DQB1*03: JWMA, 03:RCH

_____________________________

DQ2

DQA1*05:01/05:05 Positive, one copy

DQB1*02:01/02:02 Negative

---------------------------------

DQ8

DQA1*03:XX Negative

DQB1*03:02 Positive, one copy

_______________________________________

The patient is positive for DQA1*05, one half of the DQ2 heterodimer. The Celiac Disease risk from the HLA DQA/DQ8 genotype is approximately 1:1842 (0.05%). This is less than the 1% risk in the general population.

Code Translation:

JWMA 03/31/33/34

RCH 02/32

Okay, I understand I have half copies of DQ2 and DQ8 (big question - who in my family has WHOLE copies??????). I understand the statement "The patient is positive for DQA1*05"; however, I don't understand the same (or lack of) statement about the DQ8 gene. I'd like to look it up but am I looking up DQB1*03:02 or DQB1*03:03??? And what is that JWMA, RCH stuff?

I tried calling the Labcorp HLA question line but they are of course, closed for the day.

My iron is low all around - low serum, low saturation, low ferritin. I'm anemic.

My MCH/MCHC is low.

My Hemoglobin A1c is high (gee, prediabetic).

My Vit D is Low.

My TPO is high, but at 61 its better than the 240 when I was dx'd 6 years ago!

[nora-n]

Interesting, we have had some half-DQ2 here, with diagnosis and symptoms, but no half DQ8 (probably for lack of testing)

by the way, I read that the 05* alpha chain contributes more to the celiac risk than the beta chain 02*. Wikipedia says so too.

You can find some info on half genes here, try searching. But this is fairly new because the testing was not available before.

Now I have read statistics on genes and celiac, and maybe 6 % have half genes, so this is probably not so rare. 92% have DQ2 or 8, 6% have half genes, and 2% have other genes. A recent dutch study had almost similar results.

Open Original Shared Link maybe it is possible to go to the discussion page on wikipedia and ask about the half DQ8 and what on earth the other genes mean.

I see they did not give you the full results, they only tried to find DQ8 or the two forms for DQ2, the cis and the trans versions (the 0201-0202 and DQ7, the 05* alpha chain in the DQ7,5 gene)

there was someone here once with a rare form for DQ8, and the lab did not pick it up, but enterolab did. The first lab sent the sample to a different lab and they found the DQ8 too.

So gene tests are not infallible either.

Maybe if you contact them they give you the full results. Lots of people have gotten the full results after contacting the lab. The reason they only report the DQ2 or 8 related results is that very often the doctors do not know what to do with this extra information and get confused.

[pricklypear1971]

I'll call LabCorp Monday and see what they say. I'd like to understand if that dq8 is 03,03 or 03,02.

I really want to know who is walking around with the full copies -and is it one person with both or two with one each? I think that person needs to know if s/he is dq2,8. I would want to know...

[nora-n]

if you check the wikipedia charts, you see that DQ8 is 0302.

0303 is DQ9 and DQ7 is 0301.

They are looking for 0301 too since if one has DQ7 with the 05* alpha chain, then that is half of the trans DQ2 if one has 0202 in the beta chain.

[pricklypear1971]

Yes, but which one am I??? I can't figure it out from the results...they flip the numbers around so I have no idea WHAT I'm reading...even on the dq2. The statement "the patient is dqa105" doesn't follow for me since the "alleles detected" are different from the results. Am I making any sense?

What alleles am I? On BOTH? I can't make sense out of it. And what is that JWMA, RCH???

I guess I don't get the terminology. I need a cheat sheet to get the numbers in the right place.

[Skylark]

The alleles detected and the results all match up.

HLA DQ allelles detected:

DQA1*02;01, 05:01

DQB1*03: JWMA, 03:RCH

This is the list of your four alleles. You have DQA1*0201 and DQA1*0501. (Colons are optional and I'm leaving them out.) The JWMA and RCH codes for your DQB1 are lower on the lab sheet and they explain that you have DQB1*0303 and DQB1*0302 or something so close the test cannot distinguish. I'll explain below. The old name for *0303 is DQ9 and the old name for *0302 is DQ8.

By the way, Nora is not correct that they didn't look for other genes. This is a complete genotype and all four of your HLA-DQ alleles have been identified in reasonable detail.

_____________________________

DQ2

DQA1*05:01/05:05 Positive, one copy

DQB1*02:01/02:02 Negative

---------------------------------

DQ8

DQA1*03:XX Negative

DQB1*03:02 Positive, one copy

_______________________________________

The patient is positive for DQA1*05, one half of the DQ2 heterodimer. The Celiac Disease risk from the HLA DQA/DQ8 genotype is approximately 1:1842 (0.05%). This is less than the 1% risk in the general population.

This is a summary of your four alleles with respect to celiac disease. They are listing which of your genes match known celiac alleles, with the known celiac alleles on the left and your test results on the right. It makes a pretty "positive/negative" list for doctors who don't understand genetics. You have one celiac DQA, DQA1*0501 and one celiac DQB, DQB1*0302 (DQ8).

Code Translation:

JWMA 03/31/33/34

RCH 02/32

I believe this is the bit that explains JWMA and RCH above. They are using a test (probably PCR) that doesn't distinguish between very similar DQB1*03 alleles and the report is ultra-conservative. It looks like the JWMA is either *0303, 0331, 0333, or 0334, and RCH is either *0302 or 0332. I was able to find a reference that mentions *0331 is only one nucleotide different from *0303 which would explain why they can't tell them apart. Genes are not tested by full sequencing, which is what it would take. It doesn't really matter in terms of celiac disease.

You have a 2/3 of genotype that is strongly associated with both celiac and type 1 diabetes (DQ2.5/DQ8). You will have trouble finding studies on your exact genotype because you're a bit of a rare bird. DQA1*0201/DQB1*0303 is a reasonably common pair of genes to have on one chromosome and inherit together, but the other two that you might call DQ8.5 would be an unusual pair.

You might pay close attention to the prediabetes and the genetics certainly support genetic gluten intolerance/celiac.

[nora-n]

yes, I did not decipher it all since I got hung up on the alphabet soup letters.

I did not figure out what was actually tested for, or what were the results vs what was tested for.

Thank you very much for explaining it all!

So glad you explained it!

[nora-n]

I think this is such a constellation:
Open Original Shared Link

 

Sorry for bumping a old thread