1 in 100 people have celiac disease worldwide, and that means they are carriers of one of the two known celiac disease genes. If you suspect you have celiac disease, or gluten is not your friend, you may want to undergo genetic testing for celiac disease to determine if you are predispositioned to the autoimmune disorder. This article will help you decide if genetic testing is right for you and how to determine, via genetic tests, if you carry one of the celiac genes. This post contains affiliate links. InsideTracker sent me a free test to try in this post. Please read my disclosures.
I have celiac disease, an inherited, genetic disorder. I inherited one or both of the known celiac genes, HLA-DQ2 and/or HLA-DQ8, from one or both of my parents. More than 90 percent of celiac patients carry DQ2, 5-10 percent carry DQ8, and the remaining carry half DQ2. (Karell et al. 2003)
Because I have celiac disease, it means that I will likely pass the celiac gene to one or both of my children.
Researchers found a 4.8 percent prevalence of celiac disease in first-degree relatives of patients already diagnosed with the disorder. You can read more about how celiac disease runs in families in this article.
In 2012, shortly after my celiac disease diagnosis, I tested both of my children for celiac disease. Both tested negative.
I also encouraged my parents to get tested. They both took this at-home celiac disease test, and both tested negative.
Over the years, I suspected that my son might have celiac disease. He is shorter than the vast majority of kids his age, he has low energy, and he experiences stomachaches on occasion.
Despite testing him for a second time for celiac disease, and again, coming back with a negative result, I decided the next test would be a genetic test.
Instead of putting him through an annual celiac disease blood test for the rest of his life, and always looking at him suspiciously as if he had celiac disease, I wanted to know if he was even genetically predisposed to get the disorder in the first place.
I figured if he had one of the genes, I could continue to “watch” him, as celiac disease genes are dormant in one’s body but can seemingly turn on at any time.
However, if he didn’t have one of the genes, I would know, with certainty, that he did not have celiac disease, nor would he ever have it.
How Genetic Testing Works
A simple blood test can tell you if you carry one of the genes for celiac disease, HLA-DQ2 or HLA-DQ8.
If you are a carrier of the genes, it doesn’t mean you have celiac disease, it just means you are genetically predisposed to getting celiac disease. In other words, having one of the genes simply confers susceptibility to celiac disease, it doesn’t diagnose it.
Researchers say that three factors must be present for a celiac disease gene to “turn on.”
One, you must have one of the noted celiac disease genes. Two, you must be eating gluten, the “trigger” food. Three, you must experience some sort of intestinal permeability (leaky gut) episode. This may be some sort of change in your gut flora due to illness, stress or trauma, poor eating habits or environmental factors.
I requested the genetic test through my son’s pediatrician. I was anxious to confirm my suspicions with a blood test.
The results shocked me.
While I was certain he had one of the genes, the blood test revealed otherwise.
He tested negative for both DQ2 and DQ8 and he is not at risk for any of the HLA DQ risk alleles. (Alleles are one half of a gene. Each gene is comprised of two alleles, one inherited from your mother, the other from your father.)
Why Get Genetically Tested for Celiac
There are several reasons why someone would want to get genetically tested for celiac disease.
Keep in mind, however, that an estimated 30 percent of the population carries one of the celiac disease genes, yet only three percent eventually develop the autoimmune disease. (Source: NIH GARD)
(1) A First Degree Relative Has Celiac
First, in my case, I wanted to genetically test my son for celiac disease because I knew he was genetically predisposed to get the disease since his mom (me) had it.
If you have a first degree relative with celiac disease, but you test negative for celiac disease, you might consider getting a genetic test as a next step to see if you need to continue screening for celiac disease or if you’re in the clear.
(2) You Were Not Tested for Celiac Before Implementing a Gluten-Free Diet
Second, a lot of people do a genetic test for celiac disease if they’ve already implemented a gluten-free diet before they were tested for celiac disease.
Remember, you must be eating gluten in order for any celiac disease test to be positive. This is why many people who go gluten free before ruling out celiac disease take the controversial Gluten Challenge, which allows them to get tested for celiac disease after implementing a gluten-free diet.
If you take a celiac disease test while you’re on a gluten-free diet, chances are it will come back negative even if you have celiac disease.
This happened to me. I tested positive for celiac disease in 2012, however, I took this at-home celiac disease test years later, long after I ditched gluten for good, and it came back negative.
If your genetic test is negative for both DQ2 and DQ8 genes, like my son’s test, then you know you don’t have nor can ever have celiac disease.
Curiosity may seem like a trivial reason to get tested, but let me tell you, I’ve always been curious where the celiac disease gene(s) came from in my family. My mom’s side of the family always complained of “stomach” issues, like IBS, yet my dad’s side has a history of autoimmune disorders and cancer.
I would love for my parents to get tested for the celiac disease gene so I can know which side of the family it came from.
(Note: While neither of my parents have undergone genetic tests for celiac disease, in subsequent years to my diagnosis, my cousin’s child, on my dad’s side, was diagnosed with celiac disease, leading me to believe the disorder comes from my dad’s side of the family.)
Curiosity is what lead me to get my son genetically tested for celiac disease, and it’s what compelled me to accept an offer to take a genetic test from a company called InsideTracker.
InsideTracker is an online company that helps you analyze your blood, DNA, lifestyle habits, and nutrition, to help you learn how to live, eat and perform better. In other words, the company helps you find your genetic potential!
The company sent me a free DNA Kit. The DNA Kit examines 261 genetic markers in order to reveal one’s personal wellness traits and risk factors.
I swabbed my cheek and returned the test tube, via mail, to InsideTracker for analysis. I then waite just over a week for my results to arrive, via email. I couldn’t wait to find out if I carried one of the celiac disease genes (I must!) and to learn more about what my genes say about me.Take 25% off at InsideTracker.com using code INSIDETWENTYFIVE at checkout!
What the Genetic Test Found
The test revealed that I have a gene variant that increases my risk for gluten sensitivity.
When I examined the source of this information a bit further, I found this rsID number. This number is essentially a biomarker used to identify variations found in DNA.
I didn’t know the meaning of the number, so I Googled my rsID number, and found a study for celiac disease that identifies risk variants in genetic markers for celiac disease.
I learned that my rsID number, rs2187668, is known as HLA-DQ2.5cis, and it is the most common HLA-DQ2 haplotype (group of inherited genes) associated with celiac disease. Bingo!
Indeed, InsideTracker found that I had the DQ2 gene, the most common gene associated with celiac disease, and therefore is concluding that I have a genetic predisposition to a gluten intolerance.
Unfortunately, the test does not say, in plain English, that I have a genetic predisposition to celiac disease, instead leading me to think perhaps I have only a gluten sensitivity. I wish the test went further to explain that I had the most common gene associated with celiac disease, and therefore would recommend that I get tested for celiac disease.
It’s extremely important for someone to rule out celiac disease before implementing a gluten-free diet for many reasons, which I outline in this article that I highly recommend you read before going on a gluten-free diet.Take 25% off at InsideTracker.com using code INSIDETWENTYFIVE at checkout!
Does a Negative Genetic Test Rule Out Gluten Sensitivity?
A lot of people rule out celiac disease either through testing or genetic testing, but does so preclude them from having a gluten sensitivity?
The answer is no. Even if you don’t have a celiac disease gene, you can still have a gluten sensitivity.
While research on gluten sensitivity is fledgling, researchers are finding that it is a unique condition irrelevant of one’s genetic predisposition to celiac disease.
In fact, just because my son doesn’t carry either celiac gene doesn’t mean he can or always will tolerate gluten. He should be vigilant that, in the future, gluten could become an issue for him. For now, however, he is in the clear and can safely eat gluten without worry of turning on a dormant celiac gene.
Learn more about non-celiac gluten sensitivity, and how to test for it, in this article.
The Pros and Cons of InsideTracker
Genes can reveal so much about our body types, potential health issues, our body constitution, and so much more.
I love that the InsideTracker’s DNA Kit gave me a small peek into what my genes might be telling me about my health.
My genes reveal that I have an elevated genetic risk for:
- Putting on weight
- Having an elevated total cholesterol
- Drinking more caffeine than average (although I quit caffeine years ago)
- Sleeping longer than average
- Increased blood pressure
- Low vitamin D levels
- A peanut allergy
On the bright side, my genes reveal, among other things, that:
- I have a reduced genetic risk for low blood calcium levels.
- I would do better at power sports, like sprinting and weight lifting, than endurance activities.
- I have a reduced risk for being lactose intolerant.
I had no idea my genes revealed so much about me and that my genes could tell me how my body reacts to various foods, sleep and exercise.
While InsideTracker does a great job telling me how my genes affect many aspects of my life, it does a poor job directing people to get tested for celiac disease when they have one of the known celiac disease genes.
The test revealed that I carry the DQ2 gene, the most common celiac gene, yet it encouraged me to explore getting tested for a “gluten sensitivity” vs. getting tested for celiac disease. I wish InsideTracker went further in encouraging people with one of the celiac disease genes to get properly tested for the autoimmune disorder.
A Few Odds and Ends
I’d like to answer a few more questions about genetic testing for celiac disease, and I’ll add to this section as more questions arise.
What About 23andMe?
A lot of people have suggested that I use 23andMe to identify if I carry one of the two celiac disease genes.
I have thought a lot about using this service, and, while I have considered 23andMe in the past, I am reluctant to do so for various privacy reasons.
I also was hesitant to put my minor child’s DNA information in the 23andMe database. If he wants to do that later in life, he can, but I vow to respect his privacy until he is an adult and has a say in the matter.
Does Insurance Cover Genetic Testing?
I have been asked several times if insurance covers genetic testing, and it does not (at least mine did not). Insurance also does not cover InsideTracker or other online genetic or health tests.
Some flex spending accounts, like an FSA or HSA, might allow you to use pre-tax funds to pay for such tests. Inquire with your insurance company and healthcare plan to see if this is the case for you.
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