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Member Since 15 Feb 2012
Offline Last Active Jan 01 2015 10:36 AM

#914926 Interpreting Your Celiac Genetic Results

Posted by on 03 May 2014 - 12:47 PM

This seems to come up a fair amount, thus I thought it might be helpful to have a collection of relevant information all in one spot. [If you are only looking to interpret your results, skip down to the asterisks.] 


Per current knowledge, if you do not possess any of the celiac genes you are not considered to be at risk for developing the disease at any point in your life. It is for this reason that doctors have begun testing for the genes more and more in situations where the diagnosis is unclear, or to establish risk in family members of persons with the disease. However, there have been rare cases where people have been found to be suffering from celiac disease despite not having the genetics to support the diagnosis. And if that is not confusing enough, the University of Chicago Celiac Disease center acknowledges that it is not impossible to have Dermatitis Herpetiformis (DH - the celiac rash) without the celiac genes, as well:


"Is it possible to have dermatitis herpetiformis (DH) without having the genes for celiac disease?

It's extremely unlikely to have dermatitis herpetiformis (DH) without the genes for celiac disease, but not impossible. (http://www.curecelia...iformis/page/2)


So, doctor's frequently are using genetic tests as a means to rule-out celiac disease. There is one main issue with doing this: the comprehensiveness of testing is widely variable! Some physicians test for all of the celiac-related genes, while others only look for one variation.


Essentially, if you do not have the celiac genes but have reason to suspect you are suffering from celiac disease, pursue further testing (via blood and/or endoscopy) prior to going gluten free.


***To the nitty gritty... 


More often than not (especially if you ordered the tests through your doctor), you'll end up with a piece of paper with lots of numbers and the words present or absent after them. What does it all mean? Briefly,




HLA-DQA1 *0501 + HLA-DQB1 *0201 = HLA-DQ2.5. (A1 and B1 simply refer to different parts. They are alternatively referred to as the alpha and beta portions) This is the most common haplotype found in celiacs, although it is also very prevalent in non-celiacs as well: up to 30% of the US population (higher in Europe) might have the A1 and/or the B1 portion of this haplotype! It is thought to confer the highest risk, especially when the individual is homozygous (possesses two copies).


HLA-DQA1 *0201 + HLA-DQB1 *0202 = HLA-DQ2.2. This haplotype occurs in lower frequencies across the world and is also less common in celiacs. It is thought to confer a potentially 'lower disease risk'. It is important to note that low risk does not equal no risk: this haplotype can mediate celiac disease by itself. Sometimes the A1 or B1 portion of DQ2.2 combines with the A1 or B1 portion of DQ2.5 which confers a marginally higher risk than DQ2.2 alone.


HLA-DQA1 *0302 + HLA-DQB1 *0202 = HLA-DQ2.3. As far as I know, DQ2.3 is very similar to DQ2.2. The tests do not often differentiate between the two. 


As mentioned above, HLA-DQ2.5 and HLA-DQ2.2 (their alpha and beta portions) may combine with each other in any number of amalgamations, or they may independently combine with other celiac genes (DQ8, DQ7.5), or genes unrelated to celiac disease (DQ5, DQ6,...).




HLA-DQA1 *0301 OR HLA-DQA1 *0302 + HLA *0302 = HLA-DQ8.1 DQ8 is a less frequent variation worldwide, and thus it is also occurs in smaller numbers within the celiac population. 96+% of celiac's have some form of DQ2 or DQ8.


Just like DQ2.5 and DQ2.2 may union with other celiac gene variations, DQ8 can do the same thing.




Some celiac genetic tests report on DQ7 and others don't. If they do, it is almost always the alpha portion of DQ7.5:


HLA-DQA1 *0505. This is part of DQ7.5 and may combine with HLA-DQB1 *0202 (2.2) to raise the risk of celiac in a similar way as HLA-DQ2.5 does. Or, it may combine with HLA-DQB1 *0201 (2.5), which also raises the risk [marginally]. DQ7 can be involved in celiac disease separate from DQ2 as well, but the relationship is not quite as well known as in DQ2 or DQ8.


In short:


If you have any of the variations under the DQ2 or DQ8 headings, you have a celiac gene. This, however, does not mean you have or will develop the disease. Up to 40% of the US population possesses a celiac gene, but only 1% will go on to develop the disease. Listed below are a few things that will further raise your likelihood [non-comprehensive]:

  • Having an immediate family member with the disease.
  • Having Type 1 Diabetes.
  • Having autoimmune thyroid disease.
  • Having a different autoimmune disease, yourself.

Also: a genetic test is not fully comprehensive unless and until it includes all of the alpha and beta variations of DQ2 and DQ8 (listed under their constituent headings above). I am hesitant to include DQ7 in the former statement as I feel there is still more research to be done to further elucidate its involvement with celiac disease. If your genetic results reveal that certain celiac genes are absent, but not all of the variations were tested, you can conclude that your risk of celiac is lower (because it is less likely you will have the more uncommon gene variations), but not non-existant. Gene testing can be a very helpful tool, but rarely the be-all and end-all.


I so hope this was helpful to read through! Thanks and best wishes,

Ninja  :ph34r:


A few "extras":


For those interested: HLA = Human Leukocyte Antigen. HLA is found on a portion of the Major Histocompatibility Complex (MHC) located on chromosome 6. The MHC is frequently discussed/implicated in autoimmune diseases because it houses a large quantity of genes integral to the functioning of the immune system. DQ is a receptor type protein. Roughly, DQ2 and DQ8 can produce a specific kind of protein that, when 'turned on', may begin binding to gliadin (gluten). This bound protein is what the body reacts to, therefore resulting in the autoimmune response characteristic of celiac disease.


The wikipedia page has a nice table which lists all of the DQ types – very helpful for interpretation of non-celiac related genes: http://en.wikipedia.org/wiki/HLA-DQ


More explanation of the role of DQ7 in celiac: http://celiacdisease...l/g/Hla-Dq7.htm


DQ9 has been associated with celiac in asian populations. I am not sure if the studies have been replicated as of yet or where they are in their research on this: http://celiacdisease...l/g/Hla-Dq9.htm

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#913184 Genetic Test For Celiac, How To Interpret Results?

Posted by on 19 April 2014 - 03:44 PM

My absolute pleasure. This board is amazing and such a huge source of information, support and guidance. So grateful it exists! Welcome to the fold.  :ph34r:  :)

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#913159 Genetic Test For Celiac, How To Interpret Results?

Posted by on 19 April 2014 - 10:07 AM

Thanks! I am happy that it could help. :)


@Cindy, having the genes plus symptoms can only give cause for further investigation via blood test and/or endoscopic biopsy. Both of those would require you to remain on gluten for accurate results. If you have family members with celiac or other kinds of autoimmune diseases, especially Type 1 diabetes and Hashimoto's thyroiditis, that could increase the likelihood that you are dealing with celiac vs. non-celiac gluten intolerance (NCGI). Also, symptoms of malabsorption (vitamin and mineral deficiencies, etc.) may suggest an autoimmune cause (celiac) vs. NCGI, though some people with NCGI do have malabsorption too. (Not so much is known about the etiology and potential ramifications of NCGI as of now!)


Ultimately though, if you haven't had the blood tests or endoscopic biopsy I would encourage you to pursue them, particularly if you are planning to try going gluten free! For so many of us we end up in a bind because gluten free makes us feel so much better and thus, we end up not wanting to go back on it just to get tested.


Bottom line: there's really no way to know whether you have celiac vs. NCGI (or something entirely different) definitively based upon symptoms and gene results without further celiac testing. I really wish there was, as that could potentially make diagnosis much less confusing! By the way, your doc is pretty awesome for ordering such a thorough celiac gene test..  B)


Ps – In case you are interested, the full celiac antibody blood panel includes:


Total serum IGA

Tissue Transglutaminase (TTG) IGG


Deamidated Gliadin Peptide (DGP) IGG


Endomysial Antibody (EMA) IGA

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#913122 Genetic Test For Celiac, How To Interpret Results?

Posted by on 18 April 2014 - 10:10 PM

Hi Cindy,


HLA-DQB1 *02:01   NOT PRESENT   HLA-DQB1 *02:02   PRESENT   HLA-DQA1 *02:01   PRESENT   HLA-DQA1 *05:01   NOT PRESENT   HLA-DQA1 *05:05   NOT PRESENT   HLA-DQB1 *03:02(8)   NOT PRESENT   HLA-DQA1 *03:XX  



All of the above are variations of what are considered the "celiac genes" (HLA-DQ2, -DQ8 and -DQ7).


HLA-DQB1 *0201 + HLA-DQA1 *0501 make up the HLA-DQ2.5 haplotype. This is the most common haplotype in celiac disease and is said to confer the "most" risk. However, this haplotype is also generally pretty common across the U.S. (and it occurs in higher frequencies in Europe) as well.  A1 and B1 just refer to different parts of the allele.


HLA-DQB1 *0302 + HLA-DQA1 *03XX make up the HLA-DQ8 haplotype. Most celiac's who do not have HLA-DQ2.5 have the HLA-DQ8 haplotype instead. HLA-DQ8 worldwide, is not as common as DQ2.5, but having it does not necessarily mean that one has celiac.


HLA-DQA1 *0505 is part of HLA-DQ7. This can combine with HLA-DQB1 *0202 and raise the risk of celiac in a similar way as HLA-DQ2.5 does. Or, it may combine with HLA-DQB1 *0201, which also raises the risk [marginally]. DQ7 can be involved in celiac disease separate from DQ2 as well, but the relationship is not quite as well known as in DQ2 or DQ8.


HLA-DQA1 *0201 + HLA-DQB1 *0202 is the HLA-DQ2.2 haplotype. This is also considered to be a "celiac gene" although it is thought to confer a lower risk than other variations such as DQ2.5. However, low risk is not no risk and there does exist a good percentage of celiacs with DQ2.2 without DQ2.5. Clear as mud?


It looks like you are positive for HLA-DQ2.2. Essentially this only means that you may or may not develop celiac at some point in your life. Have you had the celiac antibody tests run? 


I hope this helps!


Best wishes,

Ninja :)

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#908289 Acid Reflux And Ppi's

Posted by on 07 March 2014 - 07:14 PM

Yes, I think I need to try some of these.  I know it sounds silly, but the name of them puts me off.  It sounds like something that would make your acidity worse.  :unsure:. I understand though, that the older you get the less acid you have naturally present in your stomach.

I totally understand! I was hesitant to try the Betaine HCL myself out of fear that it would make the pain and symptoms worse. Thankfully that has not been the case! I started off taking just one tablet even though the bottle said to take two; eventually I worked up to two, which has been helpful for me. :) Keep us posted!

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#852684 I'm Done

Posted by on 07 February 2013 - 10:33 AM

Hi Razzle,

Have you looked into/been tested for SIBO? I've heard that many people who continue to develop food intolerances, to the point of losing many whole, good, and nutritious foods, have had SIBO. Abdominal bloating, cramps, pain, "fullness" and weight loss are just some of the symptoms.

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#849644 Well, Results Of Genetic Testing In...

Posted by on 21 January 2013 - 06:30 PM

I completely agree! If celiac meant taking 1 pill everyday I'm sure we'd have been diagnosed ages ago! Running the tests is easy, but diagnosing without them is the true test, IMO.

I wish it weren't so hard to fight for what we need amongst those who are supposed to fight with us. However, we can ban together and wait and wait and wait for the doctors to tell us that we were right all along (like you've mentioned). :)

I'm so sorry to hear about the gluten challenge. I guess if you weren't convinced, you are now. :ph34r:
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#843057 Nearing A Year :-)

Posted by on 14 December 2012 - 05:30 PM

I can't believe it, but in about one month it'll be my one-year gluten-free anniversary. :-) Quick update:

- I'm still growing, though it's slowing down. I started at 5'4" and I'm now about a half an inch shy of 5'7". I didn't think that was possible at my age!
- GI symptoms totally gone, 'cept the occasional glutening.
- The rash (which I'm almost certain is DH) is relatively under control. It is very sensitive to iodine in addition to gluten.
- No headaches, migraines, nerve pain or tingling, exhaustion, weird "illnesses" (I've gotten sick once in the past 11 months and it was just a cold!), nausea, brain fog, everything is GONE! I was actually diagnosed with sensory processing disorder when I was little and even that has gotten much better! I'm in awe of how amazing I feel! 11 months ago I never would have believed it.
- I can tolerate lactose (in moderation). :-)

I was blood tested in October 2011 which was negative, but at that time I was gluten-lite and my doctor did not inform me that I needed to stay on gluten. Therefore, my primary doctor has told me not to go back on gluten, saying that she thinks it sounds like celiac, and we should wait until better testing comes out. I have a GI doctor appointment in January just to see if I should be doing anything else and/or getting his opinion.

I'm thrilled: I can live my life, handle stress and stay healthy and on top of things. Thank you to everyone who helped me through this. The vitamin, probiotic and digestive enzyme suggestions were invaluable and made such a huge difference. I'm so grateful. I wish I could give everyone hugs! THANK YOU!


P.S. For those of you struggling right now: things do get better! It is slow, but persistence and patience will both be your friends through the healing process. And questions! Ask lots of questions!
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#822360 Anyone Know About Orthodontic Molds?

Posted by on 08 September 2012 - 05:24 PM


Beware of the flavorings you can choose! I got hit from orthodontic molds a little while ago and found out that wheat was hiding in the flavorings they added to the mold (if you choose a flavor, that is). Of course, every facility is different.

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#807772 Something I Did Not Expect (!)

Posted by on 01 July 2012 - 04:31 PM

I was so hoping to grow once going gluten free, growing yes.......just wider, no height. At 43 i can still dream though!

Yes! Like I said, I did *not* expect to grow after going gluten-free. In fact, I never would have thought of myself as being "malnourished." It just goes to show you that a) it is a spectrum (malnourishment) and b ) people have an uncanny ability to adjust to various "normals" even though what they might be experiencing may not in fact be normal!
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#804235 DH Photo Bank

Posted by on 17 June 2012 - 07:58 PM

Great idea!

Here's some of mine:

http://s1023.photobu...1at100910PM.png (emerging)
http://s1023.photobucket.com/albums/af355/pinkgiraffe5/?action=view&current=ScreenShot2012-05-31at100910PM.png#!oZZ3QQcurrentZZhttp%3A%2F%2Fs1023.photobucket.com%2Falbums%2Faf355%2Fpinkgiraffe5%2F%3Faction%3Dview%26current%3DScreenShot2012-05-31at101025PM.png (older part of rash)
http://s1023.photobu...17at55008PM.png (this is what it looks like when it's 'inflamed')
http://s1023.photobucket.com/albums/af355/pinkgiraffe5/?action=view&current=ScreenShot2012-06-17at55008PM.png#!oZZ2QQcurrentZZhttp%3A%2F%2Fs1023.photobucket.com%2Falbums%2Faf355%2Fpinkgiraffe5%2F%3Faction%3Dview%26current%3DScreenShot2012-06-17at54924PM.png (deflated and healing. sorry about the quality)

Brief history: I went gluten free Feb. '12 in an attempt to help relieve my GI 'issues'. Through the process I have discovered that being gluten-free has resolved *many* seemingly unrelated symptoms for me. I developed this rash after my first exposure to gluten (while gluten-free, approx. March '12). I get the rash in 3 different areas - it seems to be symmetrical. Responds well to low iodine and gluten-free.

I am not formally diagnosed as I am still searching for a competent doctor. I've got a lead on one (yay!) and plan to get the genetic testing done sometime in the near future. :)

Edited to add associated symptoms: the rash is *extremely* itchy - wakes me up! It tends to appear all at once - like a volcano eruption. Triggers that I am aware of: gluten, gluten cc, iodine, nighttime, hot water and hot weather.
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#793680 Annoyed!

Posted by on 06 May 2012 - 03:55 PM

I'm not annoyed with you either! In fact, I admire your resiliency. :) I just wish you didn't have to deal with them – they seem like complete idiots! I'd like to slap some sense into some of them... :blink:

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#792614 When Someone Asks, "how Can I Get That [Celiac]?"

Posted by on 01 May 2012 - 07:12 PM

I don't think a lot of people "get it"... even those who are aware of Celiac. Honestly, when people say things like that I think it has more to do with them and less to do with you; they just don't feel comfortable with the way they look. It's unfortunate that they cannot get over themselves for a moment to admire the way you look instead of being self-depreciating, but it is what it is (and we all have our moments). I guess I would just focus on which symptoms of yours have improved and pick a few of them to mention to those who just want to focus on the weight. It is very frustrating though I've had to stop myself from going off on a few people more than once. :P

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#792050 Donating Blood

Posted by on 29 April 2012 - 02:44 PM

Gluten, or any food for that matter, does not necessarily get digested and metabolized before entering the blood stream. That is only what is supposed to happen. I have been shown partially digested fragments of food in my blood, under a microscope. That's from a leaky gut, with a lot of damage. People can have a leaky gut from other things, like a medication, I've been told. I've also been told, by a doctor addressing a local Gluten Intolerance Group meeting, that people don't fully digest wheat, barley, rye or oats, because some of the proteins are just too large and complex. It only takes a small fraction of a gluten molecule to cause a celiac reaction. There are multiple short chain peptides of gliadin, sequences of only 4 or 5 amino acids that can cause a reaction. There are multiple instances of each of these several peptides in one gliadin molecule. Partial digestion can make these peptides more available for our immune system to react to.:unsure:

Do you have any articles you could direct me to, to substantiate these statements? This thread indirectly deals with the digestion of gluten proteins...if you are interested. :)

As far as donation and the above logic – I don't know many newly or un-dx'ed Celiac's who would be up to giving blood (presumably the less recently dx'ed ones would have less damage due to the healing). :P

My 3 cents (inflation!). B)
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#789586 Beware B Vitamin Toxicity!

Posted by on 21 April 2012 - 06:43 AM

I may just point out that the serum B12 test is not the best at identifying a B12 deficiency. Most of the ranges (in the U.S.) are too low given that many people with higher LEVELS still have the symptoms of a deficiency. So, while having testing done should be helpful... make sure it's the right kind because not all doctors are clued in on vitamins and minerals. :)

Thanks for making us aware of this.
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