Genetic Testing Confirmed Celiac

[LMM]

My DD was just diagnosed with Celiac Disease. Her antibody labwork all came back with moderately high levels, negative biopsy, and a genetic positive test with DQ8 Homozygous (10X) result. With these results the Dr. diagnosed her. I am trying to understand the DQ8 Homzygous results. Does anyone have insight into this type of genetic testing. They said her relative risk was high. Does this gene explain some of her wierd symptoms and neurological symtoms? Thanks for any help!

[mushroom]

My DD was just diagnosed with Celiac Disease. Her antibody labwork all came back with moderately high levels, negative biopsy, and a genetic positive test with DQ8 Homozygous (10X) result. With these results the Dr. diagnosed her. I am trying to understand the DQ8 Homzygous results. Does anyone have insight into this type of genetic testing. They said her relative risk was high. Does this gene explain some of her wierd symptoms and neurological symtoms? Thanks for any help!

If she is double DQ8, it means she has two copies of the gene, that is she got one from you and one from her dad. The fact of having double celiac genes means nothing in relationship to her symptoms except that she has a great likelihood to have celiac disease. That she got one from each of you means that you and her dad have a predisposition to develop celiac disease, but not necessarilly that you will.

Celiac disease is expressed through a huge variety of symptoms, neurological being quite common. The most common, of course, is digestive.

[Mari]

The other responses were very good but I just wanted to add that celiac disease is a multigenetic disorder. Testing the DQ gene is more than 99% accurate for telling if a person has the predisposition to develop autoimmune celiac disease. Everybody has a DQ gene and inherits one from each parent. Each DQ gene has 2 parts, called allele 'a' and allele 'b'. Enterolab only tests for what kind of b allele is present, one from mom and one from dad. There is an amazing variety of DQ alleles which were caused by small changes (mutations) during the course of human history. Most of these alleles do not cause any problems. Most of the alleles which predispose to celiac disease are DQ2 alleles and DQ8 alleles.

Several other genes are sometimes involved in celiac disease, one is the DR gene close to the DQ gene on Chromosome 6 and others are on other chromosomes.

The DQ alleles have been sorted into group DQ 1 through DQ8 and each has been given a number. My Enterolab report read HLA DQ2 b allele 0302 and HLA DQ2 b allele 0602. A note said that 0302 was a main celiac allele and the 0602 would make the disease worse. I was at high risk (77%) and did develop symptoms as a young child. The 0302 also predisposes to Type 1 autoimmune Diabetes which a brother got and but I did not.

[LMM]

Thank you very much for your replies. I knew I only had a partial understanding of this-and now it is confirmed with these excellent replies! Does her lab result give any clue as to if she inherited it from one or both of us? I am trying to get in to be tested and my husband doesn't feel the need. I can believe it is possible I have celiac disease. (Was previously diagnosed with IBS, fibro and lactose intolerence.) HMMN-interesting my GI never thought of this! Thanks again for helping me sort through this maze!

[nora-n]

Both of you, since she is homezygous, meaning double DQ8.

Go to en.wikipedia.org and type in HLA DQ and there should be some explanations and charts that should explain more.

Now HLA DQ only accounts for 40% of the risk for celiac it says, and there are recognized at least half a dozen more other genes that give a risk for celiac.

You with 0302, that is not DQ2 (which is 0201) but DQ8. Same difference re. risk for celiac.......and there is DQ9 too.

[LMM]

Thank You, Thank You Nora! I appreciate the information and website

[nora-n]

yes and there are even more DQ pages in wikipedia, there is also a DQ2 page, or more correct several.

The beauty of the wikipedia pages are the charts on the HLA DQ page and the HLA DR page.

[RoseTapper]

I just want to add here that genetic testing is used only to rule out celiac, not to rule it in. Since 30% of the population has one or more genes for celiac, doctors test for it simply to determine if the person does NOT have celiac. However, if blood tests are positive, a person is symptomatic before going gluten free, and the symptoms resolve on a GFD, then the fourth predictor (positive genes for celiac) is adequate for diagnosing a case of celiac disease without a positive biopsy (according to Dr. Alessio Fasano).

I just returned from the annual conference of the Gluten Intolerance Group, and several experts presented new information with regard to neurological symptoms. Apparently, there is now a hypothesis that celiac is actually a neurological disease, and not a disease of the gut. Yes, that is what the new thinking is. It was explained to us that gluten acts as a brain toxin, causes plaques to grow throughout the brain (in 30% of celiac children by the time they are four), and reduces the flow of blood to the front lobes of the brain. This causes fuzzy thinking and possibly disorders such as ADHD, austism, Tourette's syndrome, and even schizophrenia (symptoms have resolved in such individuals who follow a GFD). The gut symptoms are caused by messages from the brain. This explains why so many parts of the body can be affected by celiac--the messages are being sent from the brain, which is being damaged neurologically.

[ravenwoodglass]

I just want to add here that genetic testing is used only to rule out celiac, not to rule it in. Since 30% of the population has one or more genes for celiac, doctors test for it simply to determine if the person does NOT have celiac. However, if blood tests are positive, a person is symptomatic before going gluten free, and the symptoms resolve on a GFD, then the fourth predictor (positive genes for celiac) is adequate for diagnosing a case of celiac disease without a positive biopsy (according to Dr. Alessio Fasano).

I just returned from the annual conference of the Gluten Intolerance Group, and several experts presented new information with regard to neurological symptoms. Apparently, there is now a hypothesis that celiac is actually a neurological disease, and not a disease of the gut. Yes, that is what the new thinking is. It was explained to us that gluten acts as a brain toxin, causes plaques to grow throughout the brain (in 30% of celiac children by the time they are four), and reduces the flow of blood to the front lobes of the brain. This causes fuzzy thinking and possibly disorders such as ADHD, austism, Tourette's syndrome, and even schizophrenia (symptoms have resolved in such individuals who follow a GFD). The gut symptoms are caused by messages from the brain. This explains why so many parts of the body can be affected by celiac--the messages are being sent from the brain, which is being damaged neurologically.

Great post. The only thing I have to add is that you need to make sure they test for all the celiac associated genes. Many doctors still only test for DQ2 or DQ 8 and there are 7 other associated genes.