Jump to content

  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.



  • Celiac.com Sponsor (A1):

    Celiac.com Sponsor (A1-M):

  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Question About Genetic Testing

blmoreschi

Recommended Posts

blmoreschi Apprentice
blmoreschi
Posted

My 11 year old was diagnosed in April. The rest of us (my husband, 13 year old daughter and me) were immediately tested for tTG etc and all came back normal. My husband and daughter (who is definitely his mini me) had numbers in the 0 and 1 range. Mine were in the 6 to 13 range.

 

In an effort to avoid testing everyone every 3 years if they don't even have the gene, we have started genetic testing. We assumed that the gene came from my side of the family because I have a sister with Hashimoto's, a brother with Crohn's and a first cousin with Celiac.

 

Not surprisingly, I tested positive for DQ2 and DQ8. What did surprise me is that my Celiac daughter only has DQ2 (and just one copy). My results came back before hers, so I figured she would have both.

 

Am I right in thinking that she has just one copy of DQ2 that it must come from me, and therefore we don't need to test my husband any further?

 

And we've decided to genetic test my older daughter when she's due to be retested (2-1/2 years) rather than run a tTG on her. No sense testing her every 3 years for the rest of her life if she doesn't have the gene. Right?

 

Does all this make sense? The doctors certainly seem to know less about it than I do!

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


frieze Community Regular
frieze
Posted

no.  you can have celiac without DQ8 or 2.  and no, you husband contributed one gene to your daughter, he has two, you don't know which the other is.

kareng Grand Master
kareng
Posted

no.  you can have celiac without DQ8 or 2. 

 

 

This isn't true.  At least not with current knowledge.  If you do not have a DQ 8 or DQ2 gene, you cannot have Celiac.  The DQ8 is the least common.  Only around 5% of people have this gene.

 

Open Original Shared Link

 

Open Original Shared Link

frieze Community Regular
frieze
Posted

This isn't true.  At least not with current knowledge.  If you do not have a DQ 8 or DQ2 gene, you cannot have Celiac.  The DQ8 is the least common.  Only around 5% of people have this gene.

 

Open Original Shared Link

 

Open Original Shared Link

Last time I read, those two account for 98+% of celiacs, that leaves a few "unaccounted for".  Raven is a biopsy dx celiac, I do believe, and she has neither.....other countries recognize other genes.

kareng Grand Master
kareng
Posted

Last time I read, those two account for 98+% of celiacs, that leaves a few "unaccounted for".  Raven is a biopsy dx celiac, I do believe, and she has neither.....other countries recognize other genes.

 

 

More info:

 

"What is the meaning of HLA DQ2/DQ8?

As an autoimmune disease, celiac disease is the consequence of the interplay between genes and the environment (gluten). We don’t know all the necessary genes to develop celiac disease; however, HLA DQ2 and/or DQ8 are absolutely necessary to develop the disease. Since 1/3 of the general population also have these genes, the presence of DQ2 or DQ8 does not imply that the person will develop celiac disease, rather, that they have a genetic compatibility with celiac disease. Conversely, the absence of DQ2/DQ8 almost certainly rules out celiac disease."

 

Open Original Shared Link

 

"Three conditions are necessary for celiac disease to develop: The person must have the genes (HLA-DQ2, HLA-DQ8, or both). The person must have been exposed to gluten (such as when a baby is given wheat cereal as infant food). Environmental or physiological (having to do with the body) factors may also contribute to the onset of celiac disease. -"

Open Original Shared Link

frieze Community Regular
frieze
Posted

More info:

 

"What is the meaning of HLA DQ2/DQ8?

As an autoimmune disease, celiac disease is the consequence of the interplay between genes and the environment (gluten). We don’t know all the necessary genes to develop celiac disease; however, HLA DQ2 and/or DQ8 are absolutely necessary to develop the disease. Since 1/3 of the general population also have these genes, the presence of DQ2 or DQ8 does not imply that the person will develop celiac disease, rather, that they have a genetic compatibility with celiac disease. Conversely, the absence of DQ2/DQ8 almost certainly rules out celiac disease."

 

Open Original Shared Link

 

"Three conditions are necessary for celiac disease to develop: The person must have the genes (HLA-DQ2, HLA-DQ8, or both). The person must have been exposed to gluten (such as when a baby is given wheat cereal as infant food). Environmental or physiologillcal (having to do with the body) factors may also contribute to the onset of celiac disease. -"

Open Original Shared Link

Open Original Shared Link  too tired right now to continue, I wonder what Raven's opinion will be....

https://www.celiac.com/forums/topic/60270-one-half-of-a-celiac-gene/

kareng Grand Master
kareng
Posted

Open Original Shared Link  too tired right now to continue, I wonder what Raven's opinion will be....

https://www.celiac.com/forums/topic/60270-one-half-of-a-celiac-gene/

I'm not trying to argue. I'm just putting some links to reputable Celiac Research Centers. Blogs and forum posts of people's experiences are interesting but not necessarily the best place to get your scientific info.

Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):

Celiac.com Sponsor (A8-M):


blmoreschi Apprentice
blmoreschi
Posted
  • Author

Not to be really dumb here, but I'm not sure all that dialogue above actually answered my question.

 

If I have DQ2 and DQ8 (and no celiac) and my celiac daughter has DQ2, do we still need to have my husband tested or would she have gotten the DQ2 (she only has one copy) from me? I'm just not sure how the genetics work.

1desperateladysaved Proficient
1desperateladysaved
Posted

Not to be really dumb here, but I'm not sure all that dialogue above actually answered my question.

 

If I have DQ2 and DQ8 (and no celiac) and my celiac daughter has DQ2, do we still need to have my husband tested or would she have gotten the DQ2 (she only has one copy) from me? I'm just not sure how the genetics work.

Have you one or two copies of DQ2?  It is possible to have 2 copies.  If you only have one copy, I don't think one could be sure which the child received.  Will the company that did the test help you by answering this question?  My understanding of genetics (which is very little) leads me to believe they can tell which genes the child has come from mother and father.

blmoreschi Apprentice
blmoreschi
Posted
  • Author

Have you one or two copies of DQ2?  It is possible to have 2 copies.  If you only have one copy, I don't think one could be sure which the child received.  Will the company that did the test help you by answering this question?  My understanding of genetics (which is very little) leads me to believe they can tell which genes the child has come from mother and father.

Thanks for that info. I'll check into it further!

frieze Community Regular
frieze
Posted
 

I'm not trying to argue. I'm just putting some links to reputable Celiac Research Centers. Blogs and forum posts of people's experiences are interesting but not necessarily the best place to get your scientific info.

are you from the northeast? if not you wouldn't realize that MGH is about as hide bound a conservative institution you might find.  and it has been generally acknowledged here at celiac.com that non 8 or 2 celiacs do exist, just a very small number.  why are you trying to exclude rather than include?

kareng Grand Master
kareng
Posted

are you from the northeast? if not you wouldn't realize that MGH is about as hide bound a conservative institution you might find.  and it has been generally acknowledged here at celiac.com that non 8 or 2 celiacs do exist, just a very small number.  why are you trying to exclude rather than include?

 

 

This thread isn't about your opinions about medical research institutions or trying to argue with me.  I am not "excluding" anyone.  I just wanted the OP to see info from reputable research facilities.  . :)

kareng Grand Master
kareng
Posted

 

Have you one or two copies of DQ2?  It is possible to have 2 copies.  If you only have one copy, I don't think one could be sure which the child received.  Will the company that did the test help you by answering this question?  My understanding of genetics (which is very little) leads me to believe they can tell which genes the child has come from mother and father.

 

 

Thanks for that info. I'll check into it further!

 

 

This is correct.  It isn't quite as simple as Middle School genetics but the basic idea stands. Genes are "double".  When an egg is made, it splits.  Each egg/eventual child gets 1 split half from the mom and one from the dad.  If you have the "gene" on only 1 half, it is possible the child won't get that half.  Therefore, she might have gotten it from Dad.

 

If you have 2 copies of it - then the child would get one.  But...Celiac genes aren't as simple.  There are alpha and beta alleles.....it gets really technical.  I would just get dad tested and know where everyone stands.

blmoreschi Apprentice
blmoreschi
Posted
  • Author

This is correct.  It isn't quite as simple as Middle School genetics but the basic idea stands. Genes are "double".  When an egg is made, it splits.  Each egg/eventual child gets 1 split half from the mom and one from the dad.  If you have the "gene" on only 1 half, it is possible the child won't get that half.  Therefore, she might have gotten it from Dad.

 

If you have 2 copies of it - then the child would get one.  But...Celiac genes aren't as simple.  There are alpha and beta alleles.....it gets really technical.  I would just get dad tested and know where everyone stands.

Thanks - that's the simplified answer I was looking for! :)

frieze Community Regular
frieze
Posted

This thread isn't about your opinions about medical research institutions or trying to argue with me.  I am not "excluding" anyone.  I just wanted the OP to see info from reputable research facilities.  . :)

and I was trying to help you, by expanding your knowledge about what we call "the General", lol.  and yes, your are excluding those very few persons who are not DQ2 or 8, such as Ravenwood.

ravenwoodglass Mentor
ravenwoodglass
Posted

We all need to keep in mind that genetic research is really in it's infancy. There is a lot we don't know. Until they start doing genetic testing on every celiac diagnosed there will remain much to learn. I am a double DQ9 firmly diagnosed celiac. I am not alone. I don't have much time so only can provide one link. Here it is.

 

Open Original Shared Link

 

Evidence that HLA-DQ9 confers risk to celiac disease by presence of DQ9-restricted gluten-specific T cells. 

There are more peer reviewed journal articles out there if one wants to research further.

kareng Grand Master
kareng
Posted

Once again - Genetic research is not the OP's question.  If you want to discuss research into other genes that may be associated with Celiac, start your own thread and discuss.  If you want to slam Mass General and Dr. Fasano, I'm not sure that would be a good new topic without some real evidence of whatever you are accusing Dr. F of doing or not doing.

ravenwoodglass Mentor
ravenwoodglass
Posted

.

 

In an effort to avoid testing everyone every 3 years if they don't even have the gene, we have started genetic testing. .

 

 

And we've decided to genetic test my older daughter when she's due to be retested (2-1/2 years) rather than run a tTG on her. No sense testing her every 3 years for the rest of her life if she doesn't have the gene. Right?

 

Does all this make sense? The doctors certainly seem to know less about it than I do!

The reason I gave a reply previously with info on another gene that is associated with celiac was because of this part of your post. While gene testing can be a part of the diagnosis process just because someone does or doesn't have one of the two most common genes does not mean someone will or will not develp celiac.

Even if you older daughter doesn't show positive for DQ2 or DQ8 doesn't mean she may not develp the disease at some point. Are her chances greater if she does have them, yes.  You could chose to test her periodically until adulthood or you could choose to test her only if she develops symptoms. Do be aware though that celiac has many presentations so it may first appear as skin or mood issues not GI related ones. Many doctors forget or are not aware that celiac impacts much more than just the gut.

frieze Community Regular
frieze
Posted

We all need to keep in mind that genetic research is really in it's infancy. There is a lot we don't know. Until they start doing genetic testing on every celiac diagnosed there will remain much to learn. I am a double DQ9 firmly diagnosed celiac. I am not alone. I don't have much time so only can provide one link. Here it is.

 

Open Original Shared Link

 

Evidence that HLA-DQ9 confers risk to celiac disease by presence of DQ9-restricted gluten-specific T cells. 

There are more peer reviewed journal articles out there if one wants to research further.

thanks!

frieze Community Regular
frieze
Posted

The reason I gave a reply previously with info on another gene that is associated with celiac was because of this part of your post. While gene testing can be a part of the diagnosis process just because someone does or doesn't have one of the two most common genes does not mean someone will or will not develp celiac.

Even if you older daughter doesn't show positive for DQ2 or DQ8 doesn't mean she may not develp the disease at some point. Are her chances greater if she does have them, yes.  You could chose to test her periodically until adulthood or you could choose to test her only if she develops symptoms. Do be aware though that celiac has many presentations so it may first appear as skin or mood issues not GI related ones. Many doctors forget or are not aware that celiac impacts much more than just the gut.

my point, as well!  do not exclude on present knowledge. 

Archived

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

Go to topic listing

  • Get Celiac.com Updates:
    Support Celiac.com:
    Join eNewsletter
    Donate
  • Celiac.com Sponsor (A17):
    Celiac.com Sponsor (A17):



    Celiac.com Sponsors (A17-M):



  • Recent Activity

    1. Colleen H
      - Colleen H replied to Colleen H's topic in Coping with Celiac Disease
      2

      Gluten related ??

      Thank you so much for your response Yes it seems as though things get very painful as time goes on. I'm not eating gluten as far as I know. However, I'm not sure of cross contamination. My system seems to weaken to hidden spices and other possibilities. ??? if cross contamination is possible...I am in a super sensitive mode of celiac disease...
    2. Jmartes71
      - Jmartes71 replied to Jmartes71's topic in Coping with Celiac Disease
      4

      My only proof

      EXACTLY! I was asked yesterday on my LAST video call with Standford and I stated exactly yes absolutely this is why I need the name! One, get proper care, two, not get worse.Im falling apart, stressed out, in pain and just opened email from Stanford stating I was rude ect.I want that video reviewed by higher ups and see if that women still has a job or not...
    3. AlwaysLearning
      - AlwaysLearning replied to Jmartes71's topic in Coping with Celiac Disease
      4

      My only proof

      We feel your pain. It took me 20+ years of regularly going to doctors desperate for answers only to be told there was nothing wrong with me … when I was 20 pounds underweight, suffering from severe nutritional deficiencies, and in a great deal of pain. I had to figure it out for myself. If you're in the U.S., not having an official diagnosis does m...
    4. AlwaysLearning
      - AlwaysLearning replied to Colleen H's topic in Coping with Celiac Disease
      2

      Gluten related ??

      If you're just starting out in being gluten free, I would expect it to take months before you learned enough about hidden sources of gluten before you stopped making major mistakes. Ice cream? Not safe unless they say it is gluten free. Spaghetti sauce? Not safe unless is says gluten-free. Natural ingredients? Who knows what's in there. You pretty much...
    5. Scott Adams
      0

      Häagen-Dazs Chocolate Dark Chocolate Mini Bars Recall Due to Undeclared Wheat and Gluten

  • Celiac.com Sponsor (A19):


  • Member Statistics

    • Total Members
      132,079
    • Most Online (within 30 mins)
      7,748
    Terra33
    Newest Member
    Terra33
    Joined
  • Celiac.com Sponsor (A20):

  • Forum Statistics

    • Total Topics
      121.5k
    • Total Posts
      1m
  • Celiac.com Sponsor (A22):



  • Celiac.com Sponsor (A21):


  • Upcoming Events

  • Posts

    • Colleen H
      Gluten related ??

      By Colleen H · Posted

      Thank you so much for your response  Yes it seems as though things get very painful as time goes on.  I'm not eating gluten as far as I know.  However, I'm not sure of cross contamination.  My system seems to weaken to hidden spices and other possibilities. ???  if cross contamination is possible...I am in a super sensitive mode of celiac disease.. Neuropathy from head to toes
    • Jmartes71
      My only proof

      By Jmartes71 · Posted

      EXACTLY! I was asked yesterday on my LAST video call with Standford and I stated exactly yes absolutely this is why I need the name! One, get proper care, two, not get worse.Im falling apart, stressed out, in pain and just opened email from Stanford stating I was rude ect.I want that video reviewed by higher ups and see if that women still has a job or not.Im saying this because I've been medically screwed and asking for help because bills don't pay itself. This could be malpratice siit but im not good at finding lawyers
    • AlwaysLearning
      My only proof

      By AlwaysLearning · Posted

      We feel your pain. It took me 20+ years of regularly going to doctors desperate for answers only to be told there was nothing wrong with me … when I was 20 pounds underweight, suffering from severe nutritional deficiencies, and in a great deal of pain. I had to figure it out for myself. If you're in the U.S., not having an official diagnosis does mean you can't claim a tax deduction for the extra expense of gluten-free foods. But it can also be a good thing. Pre-existing conditions might be a reason why a health insurance company might reject your application or charge you more money. No official diagnosis means you don't have a pre-existing condition. I really hope you don't live in the U.S. and don't have these challenges. Do you need an official diagnosis for a specific reason? Else, I wouldn't worry about it. As long as you're diligent in remaining gluten free, your body should be healing as much as possible so there isn't much else you could do anyway. And there are plenty of us out here who never got that official diagnosis because we couldn't eat enough gluten to get tested. Now that the IL-2 test is available, I suppose I could take it, but I don't feel the need. Someone else not believing me really isn't my problem as long as I can stay in control of my own food.
    • AlwaysLearning
      Gluten related ??

      By AlwaysLearning · Posted

      If you're just starting out in being gluten free, I would expect it to take months before you learned enough about hidden sources of gluten before you stopped making major mistakes. Ice cream? Not safe unless they say it is gluten free. Spaghetti sauce? Not safe unless is says gluten-free. Natural ingredients? Who knows what's in there. You pretty much need to cook with whole ingredients yourself to avoid it completely. Most gluten-free products should be safe, but while you're in the hypersensitive phase right after going gluten free, you may notice that when something like a microwave meal seems to not be gluten-free … then you find out that it is produced in a shared facility where it can become contaminated. My reactions were much-more severe after going gluten free. The analogy that I use is that you had a whole army of soldiers waiting for some gluten to attack, and now that you took away their target, when the stragglers from the gluten army accidentally wander onto the battlefield, you still have your entire army going out and attacking them. Expect it to take two years before all of the training facilities that were producing your soldiers have fallen into disrepair and are no longer producing soldiers. But that is two years after you stop accidentally glutening yourself. Every time you do eat gluten, another training facility can be built and more soldiers will be waiting to attack. Good luck figuring things out.   
    • Russ H
      KAN-101 Treatment for Coeliac Disease

      By Russ H · Posted

      This treatment looks promising. Its aim is to provoke immune tolerance of gluten, possibly curing the disease. It passed the phase 2 trial with flying colours, and I came across a post on Reddit by one of the study volunteers. Apparently, the results were good enough that the company is applying for fast track approval.  Anokion Announces Positive Symptom Data from its Phase 2 Trial Evaluating KAN-101 for the Treatment of Celiac Disease https://www.reddit.com/r/Celiac/comments/1krx2wh/kan_101_trial_put_on_hold/
×
×
  • Create New...

Important Information

NOTICE: This site places This site places cookies on your device (Cookie settings). on your device. Continued use is acceptance of our Terms of Use, and Privacy Policy.