heard of this so called celiac disease.
Jack helping Daddy with work - Daddy's right hand man! |
That happened to us almost 4 years ago when Jack was diagnosed. My husband, Jeff and I were curious which one of us, if not both of us had the genetic markers for celiac disease. We asked Jack's Pediatric GI doctor if we could have genetic testing done. At this time as well, we were also tested for celiac disease, which we were both negative. We had Jack's older sister tested for celiac too - she was also negative.
So moving forward, I wanted to share our celiac disease genetic testing results with you in hopes to answer any questions you may have about it and
to show what it actually looks like.
Below is the results of our Celiac Disease Genetic Testing:
Jack’s DAD
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Category #
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DQ Genotype
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Increased Risk Over General Population
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Relative Risk
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8
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DQ2 Homozygous
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31X
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EXTREMELY HIGH
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ME
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Category #
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DQ Genotype
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Increased Risk Over General Population
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Relative Risk
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7
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DQ2/other high risk gene
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16X
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VERY HIGH
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Overall Risks for Patients Carrying the DQ Genotype
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Category #
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DQ Genotype
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Increased Risk Over General Population
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Relative Risk
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8
|
DQ2 Homozygous
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31X
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EXTREMELY HIGH
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7
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DQ2/other high risk gene
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16X
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VERY HIGH
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6
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DQ2/DQ8
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14X
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VERY HIGH
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5
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DQ8 Homozygous
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10X
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HIGH
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4
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DQ2 heterozygous
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10X
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HIGH
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3
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DQ8 heterozygous
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2X
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MODERATE
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2
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DQ2/other low risk gene
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<1X
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LOW
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1
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DQ2-, DQ8-
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<0.1X
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VERY LOW
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Homozygous means: two copies of the same gene - so as you can see, my husband got a double whammy. And for myself, I'm ranked pretty high too.
So unfortunately, our kiddos will have high risk celiac disease genes as well.
To explain the genes that are associated with celiac disease, I've taking excerpts from About.com - Jane Anderson's Gluten Sensitivity and Celiac Disease: Celiac Disease Genetic Testing:
"The genes that predispose you to celiac disease are located on the HLA-class II complex of our DNA, and they're known as the DQ genes. Everyone has two copies of a DQ gene - one from their mother and one from their father. There are numerous types of DQ genes, but there are two that are involved in the vast majority of celiac disease cases: HLA-DQ2 and HLA-DQ8".
"People who have two copies of HLA-DQ2 (a very small percentage of the population) carry the highest overall risk for celiac disease. People who are HLA-DQ2 homozygous also have an increased risk for at least one type of refractory celiac disease (which occurs when the gluten-free diet doesn't seem to work to control the condition), and for enteropathy-associated T-cell lymphoma, a type of cancer that's associated with celiac disease."
With all this said, my husband is actually at the doctor getting tested for celiac disease again this morning. Jeff was diagnosed last year with Sarcoidosis, which has done quite a transformation to his body. Sarcoidosis and celiac disease can be associated with one another. So celiac disease may have been triggered within the last year. Some of the symptoms Jeff has been having: bloated stomach, more trips to the bathroom, headaches and fatigue. I will be doing a blog post on Jeff's diagnosis of Sarcoidosis...it's quite interesting how it came about...who knew random ankle swelling would lead to a lung biopsy?? So stayed tuned...
Did you have genetic testing done for celiac disease? What did you find out?
I have wanted to get this done for years but have heard it is really expensive. Do you mind sharing what the cost was?
ReplyDeleteOh, please do tell about the sarcoidosis. My son is a celiac, and is dad is homozygous DQ2, same as your husband. His celiac panel was negative, but he started having liver problems, which subsided only with a gluten free diet. On the other hand, his sister who never showed an interest in getting tested, has sarcoidosis. I've been trying to show her that DC and sarcoidosis can go hand in hand, especially if you have the genetic potential, but it seems like she's not listening...
ReplyDeleteIf I recall, our insurance covered the cost...
ReplyDeleteI just came across this post, thank you for the information! So helpful. I just got my DNA test results back, I am homozygous for DQ2. I have long suspected a gluten intolerance, I suffer a lot of associated symptoms. I have not had any other official tests done, but my genotype in combo with the symptoms is enough to convince me to eliminate gluten entirely from my diet. I have an appointment with my doctor this week to request further testing too. I will also pass this knowledge along to others! :)
ReplyDelete