Jack's Daddy is DQ2 Homozygous & I'm...

Understanding where celiac disease comes from can be confusing and frustrating especially when it's an inherited autoimmune disease and no one in the family has
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
Category #	DQ Genotype	Increased Risk Over General Population	Relative Risk
8	DQ2 Homozygous	31X	EXTREMELY HIGH
ME
Category #	DQ Genotype	Increased Risk Over General Population	Relative Risk
7	DQ2/other high risk gene	16X	VERY HIGH
Overall Risks for Patients Carrying the DQ Genotype
Category #	DQ Genotype	Increased Risk Over General Population	Relative Risk
8	DQ2 Homozygous	31X	EXTREMELY HIGH
7	DQ2/other high risk gene	16X	VERY HIGH
6	DQ2/DQ8	14X	VERY HIGH
5	DQ8 Homozygous	10X	HIGH
4	DQ2 heterozygous	10X	HIGH
3	DQ8 heterozygous	2X	MODERATE
2	DQ2/other low risk gene	<1X	LOW
1	DQ2-, DQ8-	<0.1X	VERY LOW

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".

HLA-DQ2

"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...

My husband's celiac results

Did you have genetic testing done for celiac disease? What did you find out?