Help with genetic testing

[Kirita]

I received the results that my child has the genes for celiac disease (she is still undergoing testing and it has been complicated). Can someone explain if this is homozygous HLA DQ 2.5 or not? The interpretation just says permissive for celiac disease. Thank you!
DQ Alpha 1 

05:01, 5

DQ Beta 1

02:01, 02:01

DQ serologic equivalent 2,2 

 

 

[trents]

Okay, I'm taking a guess here. We are used to hearing in layman terms that having either the HLA-DQ2 or the HLA-DQ8 gene, either heterozygous or homozygous, presents the possibility of developing active celiac disease.

So, I'm guessing that the HLA-DQ2 gene is actually a range of variants (2.01-2.99) with HLA-DQ 2.5 being in the centerpiece of the range.

I'm also guessing that "permissive" is equivalent to "possessing the possibility" to develop active celiac disease and does not address the issue of hetero vs. homozygus per se.

But the fact that 2.01,2.01 is a couplet may indicated homozygousity?

All wild guesses.

[RMJ]

19 minutes ago, trents said:

Okay, I'm taking a guess here. We are used to hearing in layman terms that having either the HLA-DQ2 or the HLA-DQ8 gene, either heterozygous or homozygous, presents the possibility of developing active celiac disease.

So, I'm guessing that the HLA-DQ2 gene is actually a range of variants (2.01-2.99) with HLA-DQ 2.5 being in the centerpiece of the range.

I'm also guessing that "permissive" is equivalent to "possessing the possibility" to develop active celiac disease and does not address the issue of hetero vs. homozygus per se.

But the fact that 2.01,2.01 is a couplet may indicated homozygousity?

All wild guesses.

HLA-DQ2 is NOT a continuum 2.01 to 2.99, but I don’t understand HLA genetics well enough to explain it further.  It is not just one gene that is either this or that.

[Scott Adams]

The genetic testing results you provided indicate that your child carries two copies of the HLA-DQ2.5 beta chain (DQ Beta 1 *02:01, *02:01), which is a high-risk genetic marker for celiac disease. However, the alpha chain (DQ Alpha 1 *05:01, *05) is only partially present, as HLA-DQ2.5 typically requires the alpha chain *05:01 paired with the beta chain 02:01. Since your child has two copies of the beta chain (02:01) but only one full *05:01 alpha allele (the other appears truncated as *05), this suggests they are heterozygous for HLA-DQ2.5 rather than homozygous.

The term "permissive for celiac disease" means your child has genetic susceptibility but not necessarily the highest-risk genotype (homozygous DQ2.5). Since celiac disease development also depends on environmental triggers and other factors, further testing (such as antibody screening or biopsy) may be needed to confirm a diagnosis. Consulting a genetic counselor or gastroenterologist can help clarify these results and next steps.