Gene Tests Finally Back--Need Help Deciphering!

[ljgs]

OK, our gene tests from Kimball finally came back and I was able to see exactly which genes we all had. My results: I am positive for both DQ2 alleles (A and but negative for DQ8. Hubby is positive for DQA1 505 or 501 and negative for DQB, and also positive for DQ8. Our son is positive only for the DQA1 505 or 501 allele, so the lab indicated that he is at less risk than we are. The counselor told us that since our daughter has celiac, my husband and I have a 40 percent risk of getting it, but she couldn't tell us how much less risk our son is at. Anyone have any ideas? Are these substantial celiac genes or what? Does my husband have a higher risk than I do because he has DQ8 AND part of DQ2? Or am I at greater risk because I have the complete DQ2? Kimball doesn't break out DQ8 into two alleles. It also doesn't indicate whether we're homozygous or heterozygous.

[WheatChef]

Which dq2 alleles specifically? Did they give you the numbers for each of the genes they tested for? There's more than just 2 DQ2's and normally what's looked for is the combination of A-B, not just the A's and B's separately.

[ljgs]

Yes, sorry, I am positive for DQA1*05/DQB1*2. It says both DQA1 (*0501 or *0505) and DQB1 (*0201 or *0202) were detected. Both hubby and son are positive only for DQA1 (*0501 or *0505), not the beta part of that gene. Hubby also is positive for DQ8, but that wasn't broken down into alleles.

[WheatChef]

There is one particular gene that happens to be very strongly associated with celiacs. DQ2.5, which you have. There are many other genes associated with it however and so not having 2.5 doesn't mean that you can't develop celiacs, however having 2.5 puts you at a very strong chance.

[nora-n]

OK, I am one of those that has read a bit on HLA DQ here.

I can spell it all out for you.

You have both alleles, that means you have one HLA DQ2 gene, and the alleles are alpha 0501 beta 0201. Now they did not test very specific, just 05* and 02* but if you have both 05* and 02* then you are by deduction DQ2,5, the most common gene found in celiacs. I think 90% have that.

Now the 2,5 can be made up of 0501 in alpha, and 0201 in beta, but the trans version of 2,5 is a combination of DQ7 and DQ2,2.

You could theoreticallly have DQ2,5 in trans, with 7,5 which has 05* in alpha, and 2,2, with 0202 in beta.

But your son only has the DQ7 gene from the father, and if he had the theoretical DQ7,5 or the 2,2 from you, it would have shown up as an 05* or 0201 allele besides the listed 05* allele. So you have one normal DQ2,5 gene I think.

Enerolab would report it differntly, if you have DQ2,5 in trans, then they would report DQ7 and DQ2,2 as they only get the beta chains tested (the tests are sent out to the American Red Cross) for money reasons.

NOw your husband is half a DQ2,5 , and DQ8 which is the other typical celiac gene, but actually he is DQ7 and DQ8.

Now they know that the half DQ7, the 05*, contributes stronger to the celiac risk than the 0201 allele.

I guess the 05* does give a greater risk together with the DQ8.

You ask wether you have double DQ2, (homozygous) and the way it is written, it was kinda clear you have only one DQ2,5, and your son does not have DQ2 but the DQ7, 5 which has the 05* alpha allele.

Not so long ago, the labs would not have reported the 05* alpha chain, the DQ7. Now more and more labs report it.

Now the charts are at en.wikipedia.org and type in HLA DQ and enter in the search box.