DQ8: No Relation to the Dilly Bar

Letters from MGH re Dr. Fasano’s celiac screening today: I don’t have celiac, but I have this! I get so excited by lab results, even if they’re kind of bad. Or neutral. I just like to know. Joe has nothing. He is not a player in this game.

From Wikipedia:

DQ8 is commonly linked to autoimmune disease in the human population. DQ8 is the second most predominant isoform linked to coeliac disease and the DQ most linked to juvenile diabetes. DQ8 increases the risk for rheumatoid arthritis and is linked to the primary risk locus for RA, HLA-DR4. DR4 also plays an important role in juvenile diabetes. While the DQ8.1 haplotype is associated with disease, there is no known association with the DQB1*0305, DQ8.4 or DQ8.5 haplotypes (see infobox) with autoimmune disease; however, this may be the result of lack of study in populations that carry these and the very low frequency.

Also this:

In Europe, DQ8 is associated with juvenile diabetes and coeliac disease. The highest risk factor for type 1 diabetes is the HLA DQ8/DQ2.5 phenotype. In parts of eastern Scandinavia both DQ2.5 and DQ8 are high increases frequencies of late onset Type I… (Emphasis mine. I love Swedish textiles. This all coming together.)

I frizzled out toward the end of that paragraph, but I see the increased risk for rheumatoid arthritis and can almost feel the cool heft of the Worst Genes in Family trophy in my hands.

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8 comments

  1. Kaila511 · October 17, 2014

    That’s always a relief! I know it’s hard, but try not to make an increased risk of a disease haunt the back of your mind, it’ll just drive you crazy! (I have the bad genes of my family, and celiac too). Also, I LOVE Dr. Fasano. Best wishes of great health in your future!

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  2. type1dmom · October 17, 2014

    I love googling lab tests and trying to figure out what they mean. It is because of this that I discovered my T1 11 yr old had abnormal test results that indicated an autoimmune condition at age 3. She wasn’t diagnosed with diabetes until she was 9 and I happened to come across those old lab results about 8 months after her diagnosis.

    I also freaked out in July when she was in the ER and had a lot of blood work done and the results were posted on her electronic medical records that I have access to. Lots of out of range tests.. .turns out all of them just indicate and autoimmune condition. At that point we were well aware.

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    • type1dmom · October 17, 2014

      Also wanted to mention the specific test at 3 that was abnormal seemed to point more directly at lupus, which she does NOT have to my knowledge.

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  3. Linda · October 18, 2014

    The Wikipedia link pic kinda looks like the breast cancer ribbon all undone and dancing with the Devil. If you DON’T win the trophy, the judges were bribed.

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  4. Laddie · October 18, 2014

    Interesting post, Katy. I have a friend who is a pediatric gastroenterologist and she suggested that I get tested for DQ8 and one other gene if I wanted to rule out celiac. I didn’t bother because I really don’t believe I have any gluten or other sensitivities. But I didn’t know that I am likely to have the gene because of T1.

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  5. Need A Nap2 · October 20, 2014

    Don’t worry, the trophy goes to me! 🙂 It was not so great to find out that 2nd oldest daughter does not have the protective HLA gene (I think that’s right) for diabetes. 😦 Not a huge surprise, but would be interesting to find out about our last 2 children.

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  6. type1tot · October 22, 2014

    I love your new genetic defect. I told you I’m mthfr, right? Very catchy name. I could talk all day about genetic mutations. Fun at parties.
    Does this gene come with any special instructions?

    Like

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