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  • Scott Adams
    Scott Adams

    By Scott Adams •

    What are the Odds of Developing Celiac Disease based on HLA-DQA/DQB Genotype?

    Reviewed and edited by a celiac disease expert.

    Wondering about the odds of developing celiac disease, based on your HLA-DQA/DQB genotype? Here's a breakdown of the risk levels.

    What are the Odds of Developing Celiac Disease based on HLA-DQA/DQB Genotype? - Image: CC BY-ND 2.0--Stratosphere Hotel & Casino
    Caption: Image: CC BY-ND 2.0--Stratosphere Hotel & Casino

    Celiac.com 07/01/2021 - We get a lot of questions from celiac community members wondering about various aspects of celiac disease. One question we see a lot is about how genetic makeup influences the odds of developing celiac disease. Specifically, what are the odds of developing celiac disease based on HLA-DQA/DQB genotypes? Here's a breakdown of the odds by genotype combination.

    The odds of developing celiac disease based on HLA-DQA/DQB genotypes is as follows:

    DQ2+DQ8  1:7
    (14.3%)
    DQ2+DQ2 OR DQ2 Homozygous DQB1*02  1:10
    (10%)
    DQ8+DQ8  1:12
    (8.42%)
    DQ8+DQ8*02 1:24
    (4.2%)
    Homozygous DQB1*02 1:26
    (3.8%)
    DQ2 only 1:35
    (2.9%)
    DQ8 only 1:89
    (1.1%)
    General Population - Genotypes unknown 1:100
    (1%)
    ½ DQ2*DQB1*02 1:210
    (0.5%)
    ½ DQ2*DQA1*05 1:842
    (0.05%)
    No HLA-DQA/DQB susceptible alleles 1:2518
    (0.04%)

    Testing for celiac disease should be done using FDA-approved HLA test kits. HLA-DQA/DQB genotyping typically provides detection of DQ2 (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 (DQB1*0302)

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     For example: 

    • HLA-DQ2(DQA1*05/DQB1*02)     Positive or Negative
    • HLA-DQ8(DQA1*03/DQB1*0302)     Positive or Negative

    A testing report typically includes DQ2, DQ8, half DQ2, homozygosity for DQB1*02, and complete DQA and DQB genotypes, along with an easy-to-interpret risk assessment.
     


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    Guest Michael

    Guest Michael

    Posted

    So where you wrote “A testing report typically includes DQ2, DQ8, half DQ2….”, does “half DQ2” mean the tests catch the situation where the DQ2 alpha portion is on one allele and the DQ2beta portion is on the other allele?

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    Scott Adams

    This is one half of the DQ2 heterodimer.

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    Nitin
    On 7/14/2021 at 11:45 PM, Scott Adams said:

    This is one half of the DQ2 heterodimer.

    Does having this half of Dq2 suggests celeiac

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    Wheatwacked

    This is an older thread. To answer your question, around 48% have some of these genes and only 1% of the total population are diagnosed with active Celiac Disease. Many people have been diagnosed with Celiac Disease and have none of these genes.

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    Tall Holly

    This is great information. If I'm reading this correctly, a Homozygous DQB1*02 has a 1:26 chance even if they don't carry DQ2*DQA1*05. Is that right? Waiting on my celiac panel but was able to find out through Ancestry that I am homozygous DQB1*02 01 (but don't carry DQA1). 

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    Russ H

    This suggests 1 in 7.

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155080/

     

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  • About Me

    Scott Adams

    Scott Adams was diagnosed with celiac disease in 1994, and, due to the nearly total lack of information available at that time, was forced to become an expert on the disease in order to recover. In 1995 he launched the site that later became Celiac.com to help as many people as possible with celiac disease get diagnosed so they can begin to live happy, healthy gluten-free lives.  He is co-author of the book Cereal Killers, and founder and publisher of the (formerly paper) newsletter Journal of Gluten Sensitivity. In 1998 he founded The Gluten-Free Mall which he sold in 2014. Celiac.com does not sell any products, and is 100% advertiser supported.

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