Genetic Test Results - Other High Risk Gene?

[Shelsi]

What does this mean exactly? My daughter's genetic testing from prometheus labs says "Alleles detected: DQ2 heterodimer (HLA DQA1*0201/DQB1*02)

It says she's in risk category 7 which is very high and 16x the general population.

Does this mean she has 2 copies of the gene so both my husband and I carry it?

[ravenwoodglass]

That is what it looks like to me. I am far from an expert on the genes though. We have a couple of members who are very knowledgeable about the genes. Hopefully one of them will also answer your post soon.

[nora-n]

Terminology varies a bit. heterodimer means something like a a pair (maning here the alpha and beta chain)

DQ2, the celiac DQ2, the 2,5 type, has the 0501 alpha chain and the 0201 beta chain and they are a part of the DR3.

DQ2,2 has 0202 in the beta chain and 0201 in the alpha chain, and it is not DR3.

The charts are in wikipeia, go to Open Original Shared Link

DQ2,2 is not considered a main celaic gene but it says several times in wikipida that there is some increased risk for celiac with 2,2.

DR tye charts are at Open Original Shared Link DQ2,2 is DR7

[nora-n]

I do not know wether they mean two copies, they just did not say.

The reason they test for DQ2,2 in the first place is that DQ2,5 may be made up by DQ2,2 plus DQ7,5 together, making up the DQ2,5 by trans. That is the 0505 alpha chain from DQ7,5 plus the 0202 beta chain from DQ2,2.

Some labs test for all the alpha and beta chains and report them, and some labs only look for the known celiac genes and report them, and some labs test for all but only report the "interesing" results and keep the spcific results for themselves.

You can call them to get all the results, they might have the complete results but they only reported the celiac relevant results.

You want to know both the two alpha and two beta chains.

DQA1 xxxx and DQA2 xxxx

DQB1 xxxx and DQB2 xxxx

You already have one set:

DQA1 0201 and DQB1 xx02, probably 0202 by linkage equilibrium (certain genes appear always together)

[combo76]

What does this mean exactly? My daughter's genetic testing from prometheus labs says "Alleles detected: DQ2 heterodimer (HLA DQA1*0201/DQB1*02)

It says she's in risk category 7 which is very high and 16x the general population.

Does this mean she has 2 copies of the gene so both my husband and I carry it?

Shelsi,

I wish I could help, we are in the same situation, same result. My son's dr. told us that he does not have Celiac. But when speaking to the family dr., they say he does. Very confusing as to who to listen to. I just continue to have his blood work done, and pray that one day, this question will be resolved. I still let him eat various foods containing gluten, but when his stomach begins to ache - we pull him off of them for a while. He really doesn't give us a hard time, because he notices a difference.

I will try to follow this to see if anyone else comes up with any thoughts, I am really sorry that I can't really help you, I wish I could.