Genetic Test For Celiac, How To Interpret Results?

[cindyb1]

Not quite sure how to interpret these results? Any help would be very much appreciated. The doctor wants to see me in her office on Monday so I don't know whether to be worried or not! 

 

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  

NOT PRESENT

 

I've been trying to google the results but I am getting so confused! Thank you in advance!

Cindy

[GF Lover]

It's all Greek to me, sorry.

 

Colleen

[NoGlutenCooties]

This will either help, or give you a headache:  http://www.jbiomedsci.com/content/19/1/88

Just one word of caution... approximately 30% of the general population has at least one of the precursor genes for Celiac.  Only about 1% actually develop Celiac.

[cindyb1]

This will either help, or give you a headache:  http://www.jbiomedsci.com/content/19/1/88

Just one word of caution... approximately 30% of the general population has at least one of the precursor genes for Celiac.  Only about 1% actually develop Celiac.

Thank you! Its all confusing to me! The doctor is actually very difficult to get an appointment with so Im trying to figure it all out. xo Cindy

[Fenrir]

Genetic testing is pretty much useless so there's not much to learn from it.

 

Probably need to do all the Celiac antibody tests.

[Ninja]

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  

NOT PRESENT

 

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

[GF Lover]

Props to Ninja for tackling that one.  Good Job.

 

Colleen

[GottaSki]

Great post Ninja

 

Welcome Cindy!!!

[cahill]

Ninga you rock

I was soooo very confused by my gene testing results that  I just email my doc ( he is in Michigan and I am in Pa) and said someone translate this for me . 

email back was short  and sweet;  positive . Short and to the point works for me 

[cindyb1]

Thank you so much! So...if I have all the symptoms of celiac coupled with those genes, does that mean I am likely to have celiac? You guys are a valuable wealth of information, thank you! 

Grateful,

Cindy

[Ninja]

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.. 

 

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

 

Total serum IGA

Tissue Transglutaminase (TTG) IGG

TTG IGA

Deamidated Gliadin Peptide (DGP) IGG

DGP IGA

Endomysial Antibody (EMA) IGA

[cindyb1]

Thank you again!

 

I've been gluten-free since late last summer so the blood work didn't show anything alarming. I was getting stomach pains and eliminated various foods that I thought could be causing the problem. When I felt better from not eating gluten, I decided to stay away from gluten for good.

 

 

The Dr thought the endoscopy might not show much since I've been gluten free for so long (I went to the dr to get a confirmed diagnosis, mostly because my husband thought I was being weird and trendy by eating a gluten-free diet).

 

I am definitely not willing to go back on gluten- that would make me super sick everyday! For the past several months, Ive been having an increasingly worse reaction to the smallest bit of gluten, usually consumed accidentally while out to dinner, or even buying sauces, dressings, gravy mix, taco seasoning..I couldnt  understand my stomach issues since I wasnt eating the obvious things like bagels, bread, crackers, cookies. 

 

What would you do if you were me? Would you be contact thinking its probably celiac, maybe NCGI or would you go for an endoscopy? 

[Ninja]

I'm sorry to hear that you are getting more sensitive to gluten, though that seems to be par for the course for those of us with celiac or NCGI.

 

Personally, I would not (and did not, for that matter) go back on gluten for the tests because my quality of life is so much diminished. I want to spend as much time of my life feeling good! I figure as testing procedures continue to advance, there may be a point where we will not have to go back on gluten for accurate results. This is just me though. You have to decide how important and time sensitive it is for you to know whether you have celiac (which is a serious autoimmune disease and requires a strict gluten free diet for life) or not. 

 

Regardless, your doctor is correct: since you've been off gluten for awhile the current celiac tests will not be as accurate. While the time frame varies from doctor to doctor, it is generally accepted that you'd have to eat at minimum the equivalent of two slices of bread each day for 6-8 weeks prior to the endoscopy with biopsy – longer for the blood tests – in order to have a chance at catching any damage. 

 

I hope this helps – I wish it were more clear cut! Keep us posted.

[cindyb1]

Thank you for all of your help! You are a wealth of knowledge and very valuable to this board!! 

 

xo

Cindy

[Ninja]

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.   

[NoGlutenCooties]

Your doctor is right.  After being gluten-free for that long there is no point in getting tested.  However, if you are getting even more sensitive to accidental glutenings then you can pretty much rest assured that you have Celiac.  Tell your husband that wanting to stay alive and healthy isn't weird. 

[CeliacDaniel]

On 4/18/2014 at 11:10 PM, Ninja said:

Hi Cindy,

 

 

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

Are you able to tell me what this means?

Misc Ancillary Test 12~QUEST DIAG

TEST NAME        RESULT

Hla-DQ2            NEGATIVE

Hla-DQ8            NEGATIVE

Hla-DQA1*         01

Hla-DQB1*        0202