Genetic Results

[Beckyhux]

My son got his genetic test results back and I was looking for some clarity. HLA DQ8 was not present, but it says HLA DQ2 was, specifically "DQB1 0201 or 0202 Detected (Heterozygous)" I am confused if 0201 and 0202 are the same or different, does this mean he is positive for the beta part of DQ2 or is the beta part broke down in to two parts as well and he is just positive for one part of the beta of DQ2?? And what is his risk? He just turned 2 years old and had blood tests and scope done before age 2 due to his symptoms. I later learned testing under 2 is not reliable, so I thought the genetic testing would give us insight. He is on a gluten free diet and has been for 3 mos with improvement of most symptoms. Thank you to anyone who can help!!!

[nora-n]

it just means they tested with a test that does not discriminate between 2.2 and 2.5. Instead they look for the 05* in alpha.

 

Here in this context it means he has either half a DQ2,5  (= the 2.1 beta )

or has 2.2, which is a celiac gene too, but with less  risk for celiac.

[hayley3]

Mine was DQA1*05/DQB1*02 and negative for DQ8.

and my allergy/immunologist doctor said I had a 1 in 35 chance of Celiac disease although my tests were negative.  Endoscopy showed inflammation but I had been on a fairly strict wheat free diet for 7 years.

 

I'm not sure what heterozygous means, mine doesn't say that.  It's confusing for sure.  I tried to figure it out and felt mine was negative til my doctor phoned me and told me about the  1 in 35 chance.

[CajunChic]

Heterozygous means one copy of the gene. Homozygous is two copies (higher risk). If they didnt mention the alpha chain, he's probably only positive for the beta, half of the gene. Heterozygous dq2 does have a lower risk than homozygous, and a half heterodimer is even lower.

https://www.celiac.com/articles/21628/1/Celiac-Disease-Genetics/Page1.html

This helps explain it better.

Open Original Shared Link

This brochure helps explain the risk.

[SMRI]

So does this mean I have 2 pairs of 2 ?  02:01,02:01 Serologic Equivalent: 2,2

[CajunChic]

That looks like two beta units. To be positive for a gene, you have to have an alpha and beta unit. For dq2, the alpha code is 0501 or 0505. The beta units are 0201 or 0202. You may have two half genes.

Call the company that did your test and have them tell you two chains and explain it. I had mine explained to me, then did some insane research because I was homozygous DQ2 which carries the highest risk, so I wanted to know as much as I could about these genes.

[CajunChic]

Also, some companies only report the beta units and don't test the alpha chain. They may not have tested it and are reporting only the beta units they found.

[SMRI]

Alpha's were this...online access to tests .  I asked the GI but she couldn't explain what they meant (intern).

 

^_05:01,05 

[hayley3]

Not sure if this helps you or not but mine says HLA DA2 (DQA1*05) which A stands for the alpha and (DQB1*02) which the B stands for Beta

 

Beneath those it had all the HLADQ2 variants I tested positive for alpha: 03, 05

Then all the variants I tested positive for beta: 0201, 0301

 

It's crummy that testing companies don't use a standard and it took me forever to learn that little bit I just told you..lol

[nora-n]

Here is the chart to decipher everything:

 

Open Original Shared Link

[nora-n]

testing if it is possible to post

DQ DQ DQ Freq    

Serotype cis-isoform Subtype A1 B1 %^{Open Original Shared Linkrank}

 Open Original Shared Link

α⁵-β² 2.5 05:01^♣02:01 13. 16 ^2nd

α²-β² 2.2 02:01 02:02 11. 08 ^3rd

α³-β² 2.3 03:02^♠02:02 0. 08  

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α³-β⁴ 4.3 03:01 04:02 0. 03  

                03:02^♠04:02 0. 11  

α⁴-β⁴ 4.4 04:01 04:02 2. 26  

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α¹-β^5.1 5.1 01:01 05:01 10. 85 ^5th

                   01:02 05:01 0. 03  

                   01:03 05:01 0. 03  

                   01:04 05:01 0. 71  

α¹-β^5.2 5.2 01:02 05:02 1. 20  

                   01:03 05:02 0. 05  

α¹-β^5.3 5.3 01:04 05:03 2. 03   

α¹-β^5.4 5.4 01:02 05:04 0. 08  

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α¹-β^6.1 6.1 01:03 06:01 0. 66  

α¹-β^6.2 6.2 01:02 06:02 14. 27 ^1st

                   01:03 06:02 0. 03  

                   01:04 06:02 0. 03  

α¹-β^6.3 6.3 01:02 06:03 0. 27  

                   01:03 06:03 5. 66 ^8th

α¹-β^6.4 6.4 01:02 06:04 3. 40 ^10th

α¹-β^6.9 6.9 01:02 06:09 0. 71  

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α²-β⁷ 7.2 02:01 03:01 0. 05  

α³-β⁷ 7.3 03:01 03:01 0. 16  

                03:03^♠03:01 6. 45 ^7th

                03:01 03:04 0. 09  

                03:02^♠03:04 0. 09  

α⁴-β⁷ 7.4 04:01 03:010. 03  

α⁵-β⁷ 7.5 05:05^♣03:01 11. 06 ^4th

α⁶-β⁷ 7.6 06:01 03:01 0. 11  

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α³-β⁸ 8.1 03:01 03:02 9. 62 ^6th

                03:02^♠03:02 0. 93  

Open Original Shared Link

α²-β⁹ 9.2 02:01 03:03 3. 66 ^9th

α³-β⁹ 9.3 03:02 03:03 0. 79

[nora-n]

hayley

the 05 belongs to 0201 and is 2,5

 

the 03 belongs do 0301 and is 7.3

 

smri

there are two 05 0201 which are two DQ2,5

 

Beckyhux, 

they tested for 02* in beta, and found it, 

looked for DQ8, negative,

and looked for 05* in alpha, not found

 

So it is either 0202 DQ2,2 which is a celiac gene with less risk, 

or 0201, half a DQ2,5

[SMRI]

Thanks Nora----but for whatever reason, none of that makes send so my gluten fogged brain!!  Are you saying I have 2 copies of DQ2's?  Mainly I am trying to establish if I got genes from both parents.

[nora-n]

smri, yes, you have DQ2,5 from each of your parents. 

Not sure one of them has the normal DQ2,5 in cis since they did not find 0501  , but testing is not totally perfect
but still it is DQ2,5

[SMRI]

smri, yes, you have DQ2,5 from each of your parents. 

Not sure one of them has the normal DQ2,5 in cis since they did not find 0501  , but testing is not totally perfect

but still it is DQ2,5

 

Ok, thanks!!  Just trying to establish family history.  We are pretty confident my mom probably was Celiac based on some of her symptoms and my Dad could have been--he had a lot of GERD and some other intestinal issues but was very healthy otherwise so iffy there, but did develop type 2 diabetes in his late 60's.

[CajunChic]

Thanks Nora----but for whatever reason, none of that makes send so my gluten fogged brain!!  Are you saying I have 2 copies of DQ2's?  Mainly I am trying to establish if I got genes from both parents.

Looks like you're double DQ2 which is the highest risk. Glad you know!!

[SMRI]

Looks like you're double DQ2 which is the highest risk. Glad you know!!

 

Well, given that every other test came back positive as well, I think the genes are right .  Thanks...this clicks the last pieces of the puzzle for me!

[Dkfusion]

I have been looking for an explanation to what exactly I have, as my doctor just said that I have the genes that cause Celiac. They never went any further than that....

The wikipedia link makes some sense, but at the same time it does not. It almost seems like I have 1 full DQ2, and half of a DQ2?

 

Test: DQ Alpha 1 - 02:01,03

Test : DQ Beta 1 - 02:02,03:02 DQ Serologic Equivalent: 2,8

Method: Molecular typing of HLA antigens performed using reverse SSOP and/or SSP methods, reported as serological equivalents and low to medium resolution molecular values