Celiac.com Sponsor (A1):


Join eNewsletter


Celiac.com Sponsor (A1-m):



Join eNewsletter

Archived

This topic is now archived and is closed to further replies.

JerryK

Genetic Variants

Recommended Posts

So at first when I found out I was HLA-DQ 3,1 subtype 7,5 it was a relief because I KNEW I was not Celiac. However this last week I've been rethinking that. Just this week we've seen one 3,1 person have a positive diagnosis and another with a negative blood panel have a positive biopsy.

Someone else posted that they think DQ 3,1 subtype 7,5 is almost identical to DQ8....

Based upon that, EVEN WITH the data that I already have, it's obvious that I don't know and without a biopsy, will never know if I'm truly Celiac. I've been telling my family and my brother that I KNOW I'm not Celiac, but maybe that's not true?

I'm wondering how many unrecognized Celiac gene variants are out there and what you folks think about that? Should I believe I don't have Celiac or should I believe that I'm Gluten Intolerant but that Celiac was unproven? It's my opinion that I have it...based upon the way my body reacts...call it what you want..

Hope everyone is having a great day! j


Dental Enamel Defects

Gastro symptoms

Positive Dietary Response

Enterolab Antigliadin IgA positive 12/06

Transglutaminase IgA Positive

Blood TG IgA Negative 2/07

HLA-DQ 3,1 (Subtype 7,5)

Gluten Intolerant...Likely non Celiac

Western Oregon (Or-ee-gun) US

Why Worry?...YOU are a sentient being on a habitable world in a cosmos largely filled with nothing.

You

Share this post


Link to post
Share on other sites

Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8):


Well, studying genetics is what I do for a living, so what follows is my OPINION, but is an educated one.

"Celiac" has been defined as a disease that destroys your intestine. This destruction happens in conjunction with a specific HLA structure. Therefor, this specific structure has been identified as "The Celiac Gene(s)" (the pertinent part of the structure is the same, even though the genes are different).

It is my opinion that the proper definition of Celiac should be "an auto-antibody response to gliadins and other related prolamine structures".

If this is in fact the correct definition, that would mean the the "Celiac Gene(s)" haven't been found. All they've found are the genes that destroy your intestine when you ALSO have the Celiac gene(s).

People that get villus destruction and have different HLA haplotypes might be having a technically different sort of destructive process going on. (Maybe some eventual outcome of long term auto-antibody presence in the body.)

Since Celiac can lead to kidney destruction, islet cell destruction and nerve cell destruction, this isn't a far-fetched idea.

In my opinion, all you've learned is that you are less likely to have your intestine destroyed if you keep eating gluten. What you haven't learned is what other body parts you will destroy.


"But then, in all honesty, if scientists don't play god, who will?"

- James Watson

My sources are unreliable, but their information is fascinating.

- Ashleigh Brilliant

Leap, and the net will appear.

Share this post


Link to post
Share on other sites
Well, studying genetics is what I do for a living, so what follows is my OPINION, but is an educated one.

Wow I didn't know that..I'm impressed! Can you tell me why if we have the same genes, my brother is so much more homely than I? :lol:

In all seriousness thanks for your comments. If you can think of anything else I should know about my particular HLA, I'd like to know. j


Dental Enamel Defects

Gastro symptoms

Positive Dietary Response

Enterolab Antigliadin IgA positive 12/06

Transglutaminase IgA Positive

Blood TG IgA Negative 2/07

HLA-DQ 3,1 (Subtype 7,5)

Gluten Intolerant...Likely non Celiac

Western Oregon (Or-ee-gun) US

Why Worry?...YOU are a sentient being on a habitable world in a cosmos largely filled with nothing.

You

Share this post


Link to post
Share on other sites

If you are monozygotic (and a lot aren't, they just look the same), you still haven't been genetically identical since moments after your embryo split into two. DNA is modified throughout our lifetimes (like protein filters applied that lets certain sections be read and covers up other sections). So depending on what order you were attached to the placenta, you each got different chemical stimuli from your mom during gestation. And after birth you've both experienced very different things. Each experience (emotion, smell, food, learning, whatever) causes a slight modification of the DNA, which leads to slightly different protein ratios, which ultimately leads to different beings.

You apparently got all the "turn out cute" experiences. :)


"But then, in all honesty, if scientists don't play god, who will?"

- James Watson

My sources are unreliable, but their information is fascinating.

- Ashleigh Brilliant

Leap, and the net will appear.

Share this post


Link to post
Share on other sites

This is all very interesting to me. I'm definitely not knowledgable about genetics, but have a theory that DQ2 and 8 are the genes that predispose someone to have intestinal damage with gluten intolerance. Since the intestinal damage seems to be the easiest thing to test, it's what gets a diagnosis.

My son is double DQ3, subtype 7, so I know that I have at least one of the same. I have so many symptoms of celiac that I was positive that my gene test would come back with DQ2 or 8, so I could officially be called Celiac. It came back negative. Two of my kids are obviously gluten intolerant, one of them is MUCH shorter than we expected and has minor digestive issues and a few other symptoms and my son has digestive and behavioral issues that have cleared up completely by going gluten-free.

I'd been diagnosed with "colitis" and IBS in college, had so many cavities as a kid that I couldn't possibly count (now, my teeth are almost transparent), have psoriasis, developed debilitating arthritis, hypothyroid and the list could go on. All signs of Celiac. Going gluten-free (along with dairy-free, egg-free and soy-free) cleared almost everything up. Trying to reintroduce gluten grains several years ago was disastrous. I developed an autoimmune kidney disease and discovered on my own that it was gluten related. My nephrologist thinks I'm nuts for not taking his medications and can't figure out why I'm in remission (3 years now) and why I think that eating gluten-free has anything to do with it.

Sorry to ramble. To answer your question, Jerry - I think you're totally gluten intolerant, probably Celiac. Consider yourself Celiac and stick with the diet. Hopefully there will be some research down the road that "proves" to everyone (family, doctors, yourself) that you have something "real".


Liz

Started Specific Carbohydrate Diet on 8-16-09 because son was diagnosed with Ulcerative Colitis and want to give him moral support.

Diagnosed with Minimal Change Nephrotic Syndrome in 2003. Discovered that going completely gluten-free put me in remission.

I would have despaired unless I had believed that I would see the goodness of the Lord in the land of the living. Psalms 27:13

Share this post


Link to post
Share on other sites

Clearly they haven't discovered everything there is to know about gluten sensitivity!

Jestgar, I'm reading "Genetics for Dummies" and enjoying it, even if I am a little confused at time. Can you explain what the difference is between an allele and a gene? They've done a lousy job explaining that so far.

Also, I thought of Jerry when I read this article, it is about semi-identical twins.

http://news.bbc.co.uk/2/hi/health/6498215.stm

One egg... 2 sperm.

Share this post


Link to post
Share on other sites

A gene is the name for the section of DNA that encodes a certain protein. Allele is used when the coding is different, but the protein is basically the same.

Like having two houses painted two different colors (because you have two of each gene; one from each parent). Each house is a gene, but you have the red allele, and the green allele.

So unless you are albino, you have a gene for hair color. I have at least one brown allele, my sister has two blond alleles. My parents each have one brown and one blond allele.

Does that help?

I saw that article - very cool!! We actually use twins in our studies, it's really fascinating.


"But then, in all honesty, if scientists don't play god, who will?"

- James Watson

My sources are unreliable, but their information is fascinating.

- Ashleigh Brilliant

Leap, and the net will appear.

Share this post


Link to post
Share on other sites

I have two copies of DQ1, subtype 6. My kids both have 1,6 and 3,7. So my husband must have at least one copy of 3,7.

I've seen a lot of the 1,6 and the 3,7 being mentioned by people here, so I know those are definitely genes that cause severe problems.

Nancy


The person who says it cannot be done should not interrupt the person who is doing it.

~Chinese Proverb

Share this post


Link to post
Share on other sites
A gene is the name for the section of DNA that encodes a certain protein. Allele is used when the coding is different, but the protein is basically the same.

Like having two houses painted two different colors (because you have two of each gene; one from each parent). Each house is a gene, but you have the red allele, and the green allele.

So unless you are albino, you have a gene for hair color. I have at least one brown allele, my sister has two blond alleles. My parents each have one brown and one blond allele.

Does that help?

I saw that article - very cool!! We actually use twins in our studies, it's really fascinating.

Yeah! I think so. I'll need to reread some things and see if they make more sense now.

Share this post


Link to post
Share on other sites
Yeah! I think so. I'll need to reread some things and see if they make more sense now.

Yes thanks again for clearing ALL that up. :lol:


Dental Enamel Defects

Gastro symptoms

Positive Dietary Response

Enterolab Antigliadin IgA positive 12/06

Transglutaminase IgA Positive

Blood TG IgA Negative 2/07

HLA-DQ 3,1 (Subtype 7,5)

Gluten Intolerant...Likely non Celiac

Western Oregon (Or-ee-gun) US

Why Worry?...YOU are a sentient being on a habitable world in a cosmos largely filled with nothing.

You

Share this post


Link to post
Share on other sites

Well if you and your bro are ever going to be in Seattle for a few days, come be part of our study.

http://depts.washington.edu/uwlungs/

Only the people drawing blood actually know who you are, so I wouldn't be able to tell you anything about yourself, but, you know, all the "betterment of the world" stuff.


"But then, in all honesty, if scientists don't play god, who will?"

- James Watson

My sources are unreliable, but their information is fascinating.

- Ashleigh Brilliant

Leap, and the net will appear.

Share this post


Link to post
Share on other sites

I have DQ1, subtype 5, and DQ3, subtype 9, and I have celiac disease, not just gluten intolerance. So that being said, there are definitely other variants out there. It is ridiculous for a doctor to say, "you can't have celiac disease because you don't have DQ2 or DQ8". That's just plain ignorance. I'm sure in time, other genes and factors will be identified and recognized.

-Brian


Celiac Sprue

Multiple Food Allergies

Diagnosed June 2006

Stopped Eating June 2007

IV Nutrition: 6/27/07 - Present

Share this post


Link to post
Share on other sites
I have two copies of DQ1, subtype 6. My kids both have 1,6 and 3,7. So my husband must have at least one copy of 3,7.

I've seen a lot of the 1,6 and the 3,7 being mentioned by people here, so I know those are definitely genes that cause severe problems.

Nancy

My son is double DQB1 (only one was identified, it was 06). Let me know if you learn anything more about double DQ1! My son has classic celiac symptoms including heavy on the neurological symptoms, but I've been told since he doesn't have DQ2 and DQ8 that he doesn't have celiac. I think there is some debate on this, but I'm unclear on it...

Share this post


Link to post
Share on other sites
I have DQ1, subtype 5, and DQ3, subtype 9, and I have celiac disease, not just gluten intolerance. So that being said, there are definitely other variants out there. It is ridiculous for a doctor to say, "you can't have celiac disease because you don't have DQ2 or DQ8". That's just plain ignorance. I'm sure in time, other genes and factors will be identified and recognized.

-Brian

Interesting data. I was just going off of what Dr. Fine at Enterolab said. Sounds like he doesn't know everything. I will stop taking it as fact that I don't have Celiac...I just don't know and likely never will.


Dental Enamel Defects

Gastro symptoms

Positive Dietary Response

Enterolab Antigliadin IgA positive 12/06

Transglutaminase IgA Positive

Blood TG IgA Negative 2/07

HLA-DQ 3,1 (Subtype 7,5)

Gluten Intolerant...Likely non Celiac

Western Oregon (Or-ee-gun) US

Why Worry?...YOU are a sentient being on a habitable world in a cosmos largely filled with nothing.

You

Share this post


Link to post
Share on other sites

Hello Jerry.

I have the same problem. I've come to a realization if I have celiac or gluten intolerance I will stick to the diet just incase. To be in safe side. I too have three childrens girls, and there is not one minute I think about all this and the implications. From my father's side of the family I have so many people with the same problems, same symptoms. It goes back all the way to my great grandfather.

Best regards to everyone.

So at first when I found out I was HLA-DQ 3,1 subtype 7,5 it was a relief because I KNEW I was not Celiac. However this last week I've been rethinking that. Just this week we've seen one 3,1 person have a positive diagnosis and another with a negative blood panel have a positive biopsy.

Someone else posted that they think DQ 3,1 subtype 7,5 is almost identical to DQ8....

Based upon that, EVEN WITH the data that I already have, it's obvious that I don't know and without a biopsy, will never know if I'm truly Celiac. I've been telling my family and my brother that I KNOW I'm not Celiac, but maybe that's not true?

I'm wondering how many unrecognized Celiac gene variants are out there and what you folks think about that? Should I believe I don't have Celiac or should I believe that I'm Gluten Intolerant but that Celiac was unproven? It's my opinion that I have it...based upon the way my body reacts...call it what you want..

Hope everyone is having a great day! j


Have not I commanded you? Be strong and of a good courage; be not afraid, neither be thou dismayed: for the LORD thy God is with you every where you go.

Jos 1:9

I can do all things thru Christ which strengtheneth me.

Phi 4:13

Blood Test: Negative 03/2006

Biopsy Negative 04/2006

Stopped gluten-free diet 04/2006

EnteroLabs: Positive 04/2007

Fecal Antigliadin IgA "Positive"

Fecal Antitissue Transglutaminase IgA "Positive"

Quantitative Microscopic Fecal Fat Score "Positive"

Fecal anti-casein (cow

Share this post


Link to post
Share on other sites
My son is double DQB1 (only one was identified, it was 06). Let me know if you learn anything more about double DQ1! My son has classic celiac symptoms including heavy on the neurological symptoms, but I've been told since he doesn't have DQ2 and DQ8 that he doesn't have celiac. I think there is some debate on this, but I'm unclear on it...

I have run across conversations where people say they have heard about double DQ1 being looked at as another marker for celiac disease, or a marker for gluten intolerance with neurological symptoms anyway, but finding the actual studies people are recalling is another matter!

What I've seen is this:

"IgG anti-gliadin antibodies have been the best diagnostic marker in the neurological population we have studied. IgG anti-gliadin antibodies have a very high sensitivity for celiac disease but they are said to lack specificity. In the context of a range of mucosal abnormalities and the concept of potential celiac disease, they may be the only available immunological marker for the whole range of gluten sensitivity of which celiac disease is only a part. Further support for our contention comes from our HLA studies. Within the group of patients with neurological disease and gluten sensitivity (defined by the presence of anti-gliadin antibodies) we have found a similar HLA association to that seen in patients with celiac disease: 70% of patients have the HLA DQ2 (30% in the general population), 9% have the HLA DQ8, and the remainder have HLA DQ1. The finding of an additional HLA marker (DQ1) seen in the remaining 20% of our patients may represent an important difference between the genetic susceptibility of patients with neurological presentation to those with gastrointestinal presentation within the range of gluten sensitivity."

http://jnnp.bmj.com/cgi/content/full/72/5/560


McDougall diet (low fat vegan) since 6/00

Gluten free since 1/6/07

Soy free and completely casein and egg free since 2/15/07

Yeast free, on and off, since 3/1/07 -- I can't notice any difference one way or the other

Enterolab results -- 2/15/07

Fecal Antigliladin IgA 140 (Normal Range <10 units)

Fecal Antitissue Transglutaminase IgA 50 (Normal Range <10 units)

Quantitative Microscopic Fecal Fat Score 517 (Normal Range <300 units)

Fecal anti-casein (cow's milk) IgA antibody 127 (Normal Range <10 units)

HLA-DQB1 Molecular analysis, Allele 1 0501

HLA-DQB1 Molecular analysis, Allele 2 06xx

Serologic equivalent: HLA-DQ 1,1 (subtype 5,6)

Fecal anti-ovalbumin (chicken egg) IgA antibody 11 (Normal range <10 units)

Fecal Anti-Saccharomyces cerevisiae (dietary yeast) IgA 11 (Normal range <10 units)

Fecal Anti-Soy IgA 119 (Normal Range < 10 units)

Share this post


Link to post
Share on other sites

I have run across conversations where people say they have heard about double DQ1 being looked at as another marker for celiac disease, or a marker for gluten intolerance with neurological symptoms anyway, but finding the actual studies people are recalling is another matter!

I had thought i had found other articles about the DQ1 double, but everyone just went back to the one i posted from Dr H., I have been trying to find them all again, they were on my puter that crashed over the weekend.

paula


gluten, casein and soy free

on low carb/low sugar diet

Share this post


Link to post
Share on other sites

Via www.pubmed.com I have seen 2 articles by Dr. Hadjivassiliou where he specifically mentions DQ1 and gluten and nevrological symptoms and Ttg antibodies.

I have even seen more articles online, but the links are via the braitalk or neurotalk forum.

Several people that are DQ1 do post there.

DQ1 are: DQ1, DQ5 DQ6, or the other nomenclature: DQ1 subtype 5 or 6,

or DQ1,5 or DQ1,6 or 1.

A bit confusing.

(DQ3 are subtyes 7, 8 and 9 and 3)

nora


gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.

daughter officially diagnosed celiac and casein intolerant.

non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5

Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet

Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

Share this post


Link to post
Share on other sites


  • Celiac.com Sponsors (A19):


  • Member Statistics

    • Total Members
      92,026
    • Most Online
      6,255

    Newest Member
    AshokPrajapat
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      115,633
    • Total Posts
      969,437

  • Celiac.com Sponsor (A21):


  • Who's Online (See full list)


  • Celiac.com Sponsor (A22):


  • Blog Entries