Confused about HLA-DQ Celiac gene test result

[ainsleydale1700]

Hi, could someone help me understand the result of my gene test?

DQ2 (DQA1 0501/0505,DQB1 02XX): Negative

DQ8 (DQA1 03XX,DQB1 0302): Negative

The patient is positive for DQB1*02, one half of the DQ2 heterodimer. 

The doctor said I don't have Celiac genes.  I asked him to clarify about my positive DQB1*02, and he said it's a gene unrelated to Celiac. 

I have all the symptoms and my bloodwork is positive for antibodies, despite being on a gluten-free diet for the past 4 years.  He also did a biopsy but told me to continue a gluten-free diet and not eat gluten before the biopsy.  Based on the gene test and biopsy (which came back negative) he ruled out Celiac, leaving me very confused.  

 

[Scott Adams]

HLA testing can definitely be confusing. Classic celiac disease risk is most strongly associated with having the full HLA-DQ2 or HLA-DQ8 heterodimer, which requires specific DQA1 and DQB1 genes working together. Your report shows you are negative for the common DQ2 and DQ8 combinations, but positive for DQB102, which is one component of the DQ2 pair. On its own, DQB102 does not usually form the full DQ2 molecule most strongly linked to celiac disease, which is likely why your doctor said you do not carry the typical “celiac genes.”

However, genetics are only part of the picture. A negative gene test makes celiac disease much less likely, but not absolutely impossible in rare cases. More importantly, both antibody testing and biopsy are only reliable when someone is actively eating gluten; being gluten-free for four years before testing can cause both bloodwork and intestinal biopsy to appear falsely negative. Given your positive antibodies and ongoing symptoms, it may be reasonable to seek clarification from a gastroenterologist experienced in celiac disease about whether proper gluten exposure was done before testing and whether additional evaluation is needed.

[ainsleydale1700]

Thank you, that is helpful! 

[trents]

Welcome to the celiac.com community, @ainsleydale1700!

First, it is very unlikely, given your genetic results, that you have celiac disease. But it is not a slam dunk.

Second, there are some other reasons besides having celiac disease that your blood antibody testing was positive. There are some diseases, some medications and even (for some people) some foods (dairy, the protein "casein") that can cause elevated celiac blood antibody test scores. Usually, the other causes don't produce marginally high test scores and not super high ones. Having said that, by far, the most common reason for elevated tTG-IGA celiac antibody test scores (this is the most common test ordered by doctors when checking for celiac disease) is celiac disease itself. Please post back and list all celiac blood antibody tests that were done with their scores and with their reference ranges. Without the reference ranges for negative vs. positive we can't tell much because they vary from lab to lab.

Third, and this is an terrible bum steer by your doc, for the biopsy results to be valid, you need to have been eating generous amounts of gluten up to the day of the procedure for several weeks. 

Having said all that, it sounds most likely that you have NCGS (Non Celiac Gluten Sensitivity) as opposed to celiac disease. The two share many common symptoms but NCGS is not autoimmune in nature and doesn't damage the lining of the small bowel. What symptoms do you have? Do you have any blood work that is out of norm like iron deficiency that would suggest celiac disease?

Edited February 12 by trents

[ainsleydale1700]

17 hours ago, trents said:

Welcome to the celiac.com community, @ainsleydale1700!

First, it is very unlikely, given your genetic results, that you have celiac disease. But it is not a slam dunk.

Second, there are some other reasons besides having celiac disease that your blood antibody testing was positive. There are some diseases, some medications and even (for some people) some foods (dairy, the protein "casein") that can cause elevated celiac blood antibody test scores. Usually, the other causes don't produce marginally high test scores and not super high ones. Having said that, by far, the most common reason for elevated tTG-IGA celiac antibody test scores (this is the most common test ordered by doctors when checking for celiac disease) is celiac disease itself. Please post back and list all celiac blood antibody tests that were done with their scores and with their reference ranges. Without the reference ranges for negative vs. positive we can't tell much because they vary from lab to lab.

Third, and this is an terrible bum steer by your doc, for the biopsy results to be valid, you need to have been eating generous amounts of gluten up to the day of the procedure for several weeks. 

Having said all that, it sounds most likely that you have NCGS (Non Celiac Gluten Sensitivity) as opposed to celiac disease. The two share many common symptoms but NCGS is not autoimmune in nature and doesn't damage the lining of the small bowel. What symptoms do you have? Do you have any blood work that is out of norm like iron deficiency that would suggest celiac disease?

Thank you!  I have the classic symptoms while eating gluten-constipation, diarrhea, weight loss, loss of appetite, etc.  My main problems right now are elsewhere in my body.  Dental issues...my teeth started breaking.  I had two teeth break in the past month.  My dentist looked at my teeth with a camera and said I have no enamel left.  Im really struggling with neuropathy, and gynecological conditions.  My periods stopped 6 years ago and Im not in perimenopause or menopause.  When I consume gluten, my resting HR goes up about 30 points, and takes a week or so to normalize.  The list goes on, its very overwhelming

Ongoing vitamin D deficiency, magnesium, iron, blood creatinine is always low, dont know if thats relevant.

Below is from the Celiac panel, otherwise the results were normal.  Not crazy high, but I wasnt aware the Celiac panel was included in the bloodwork.  So I didnt prepare for it in advance, and Ive been on a gluten-free diet for the past 4 years

High t-Transglutaminase (tTG) IgG: 7, Reference Interval: 0-5, Unit: U/mL

This test detects IgG antibodies to tTG (tissue transglutaminase), and was performed because your IgA level is below normal. The immune response that occurs in celiac disease often leads to IgG antibodies against tTG.

 

I know I have a bad reaction to gluten.  But with the low likelihood of Celiac, any guidance on other paths to explore would be greatly appreciated!  Ive been trying to figure this out for years now, and more issues keep coming up.  It has been so overwhelming.  Thanks again.

[trents]

@ainsleydale1700, the additional test information you provided is very significant! Here is the important part:

"This test detects IgG antibodies to tTG (tissue transglutaminase), and was performed because your IgA level is below normal. The immune response that occurs in celiac disease often leads to IgG antibodies against tTG."

It looks to me that you may be a "seronegative" celiac. The frontline diagnostic tests for celiac disease are IGA tests, especially the tTG-IGA. However, another IGA test ("total IGA") was done to check you for IGA deficiency and you were found to be deficient. That means that the usual IGA tests done to diagnose celiac disease, such as the tTG-IGA, would not be reliable. That is why the IGG testing was done "reflexively" (which means in response to the results of a previous test, i.e., the total IGA test.). The IGG tests are not quite as reliable as the IGA tests for diagnosing celiac disease, meaning, there are more "other" possible causes for elevated IGG test scores. The IGG test did give a borderline positive result, however, so the physician ordered the endoscopy with biopsy to check for damage to the small bowel lining that would be caused by untreated (continuing to consume gluten) celiac disease. The biopsy showed no damage so the doc concluded you do not have celiac disease.

However, the monkey wrench in the gears of the doc's conclusion is that he gave you permission to proceed with the gluten free diet which would have allowed for healing of the small bowel lining to commence. How long were you gluten free before the biopsy was taken? And how much damage to the small bowel lining was there to begin with? If the damage was minimal, it might have been fully healed by the time the biopsy was done. And the symptoms you describe involving vitamin and mineral deficiencies, tooth enamel loss, cessation of menses, neuropathy, constipation alternating with diarrhea . . . IMO all scream of celiac disease as opposed to NCGS.

[ainsleydale1700]

Thanks for the insight!  It has been a whirlwind...very overwhelming and frustrating at times.  But what you are saying makes sense to me.

I have been on a Gluten Free diet for 4 years now

Its been suggested to me to get a second opinion

 

[trents]

If you have been on a gluten-free diet for four years, all of the testing with the exception of the HLA one, was a waste of time. Not sure why your physician would have even considered it. 

But that doesn't explain your ongoing celiac-like symptoms. It's beginning to look like they are being caused by some other medical issues unrelated to a gluten disorder. 

[knitty kitty]

On 2/12/2026 at 2:58 PM, ainsleydale1700 said:

The patient is positive for DQB1*02, one half of the DQ2 heterodimer. 

The doctor said I don't have Celiac genes.  I asked him to clarify about my positive DQB1*02, and he said it's a gene unrelated to Celiac. 

Your doctor is incorrect!

Your positive DQB1*02 is all you need to develop Celiac disease.  Just having one copy is sufficient to develop Celiac.  

Reference:

Carrier frequency of HLA-DQB1*02 allele in patients affected with celiac disease: A systematic review assessing the potential rationale of a targeted allelic genotyping as a first-line screening

"...importantly, a comparable risk of celiac disease development was present in individuals carrying a double dose of HLA-DQB1*02 alleles, no matter the paired HLA-DQA1 alleles."

And...

"If we could consider a mass screening looking for the carrier status of HLA-DQB1*02 only, we may identify 95% of celiac disease predisposed patients and, concomitantly, rule out (with no more than a 5% error) the lifetime risk of disease in 60%-70% of the general population: These non-predisposed individuals should never receive the serological screening, unless any consistent clinical symptoms appear at some point of the existence without any other explanation."

https://pmc.ncbi.nlm.nih.gov/articles/PMC7109277/

Classical celiac disease is more frequent with a double dose of HLA-DQB1*02: A systematic review with meta-analysis

https://pmc.ncbi.nlm.nih.gov/articles/PMC6375622/

Also, the Malabsorption of Celiac can cause low B vitamins (and minerals) that are related to poor oral health.

The Role of Vitamin B Complex in Periodontal Disease: A Systematic Review Examining Supplementation Outcomes, Age Differences in Children and Adults, and Aesthetic Changes

https://pubmed.ncbi.nlm.nih.gov/40218924/

Best wishes for your Celiac journey!

Edited February 16 by knitty kitty
Clarification

[trents]

But knitty kitty, if OP does have celiac disease, why aren't her symptoms in abatement after practicing the gluten free diet for four years? If the OP was a refractory celiac, you would think the biopsy wouldn't be clean. 

[knitty kitty]

How clean is her gluten free diet? 

Is dairy included?

Does she eat out? 

SIBO? 

Thiamine deficiency presenting as Gastrointestinal Beriberi?

[trents]

Of course, I thought about the OP not being consistent with the gluten-free diet and about cross reactivity. But you would think those things would show some damage in the biopsy, especially as severe as the symptoms seem to be. SIBO? Perhaps. But then we are probably leaving a celiac diagnosis and that is the question.

[knitty kitty]

Remember that damage to the small intestine can be microscopic and patchy.

Deficiency in Thiamine can result in Gastrointestinal Beriberi.  The symptoms are the same as a glutening!   

Clinical profile of patients presenting with thiamine-responsive upper-gastrointestinal upset: A pointer toward gastric beriberi

https://pubmed.ncbi.nlm.nih.gov/35810577/

Thiamine, gastrointestinal beriberi and acetylcholine signaling

https://pmc.ncbi.nlm.nih.gov/articles/PMC12014454/

Dental problems can result in vitamin and mineral deficiencies due to Malabsorption in Celiac Disease.

The Role of Vitamin B Complex in Periodontal Disease: A Systematic Review Examining Supplementation Outcomes, Age Differences in Children and Adults, and Aesthetic Changes

https://pubmed.ncbi.nlm.nih.gov/40218924/

Edited February 16 by knitty kitty
Added link