Jump to content
  • Sign Up
Celiac.com Sponsor:


Celiac.com Sponsor:


  • Join Our Community!

    Get help in our celiac / gluten-free forum.

  • Diana Gitig Ph.D.

    New Genetic Variants Might be Associated with Celiac Disease

    Diana Gitig Ph.D.


    Reviewed and edited by a celiac disease expert.

    Caption: New study in AJG indicates new genetic factors influence CD.

    Celiac.com 03/07/2011 - Although the HLA-DQ locus is clearly the strongest genetic factor influencing the development of celiac disease, it is certainly possible that other genes play supporting roles. Identifying these genes could help shed light on why certain genetically susceptible individuals develop celiac while others can happily (and healthily) eat gluten.

    NALP1 and NALP3 are genes that encode proteins involved in assembling the inflammasome, which is exactly what it sounds like – a complex of proteins that promotes inflammation. Gain-of function mutations – those that render the protein perpetually active, rather than responsive to activating signals – in NALP3 are known to cause autoinflammatory diseases, and NALP1 polymorphisms have been associated with the autoimmune diseases vitiligo, type I diabetes, and Crohn’s disease. NALP1 is found at high levels in T cells and Langerhans cells, but is also expressed in glandular epithelial structures including the stomach and gut. So a team of researchers in Trieste, Italy led by Dr. Sergio Crovella decided to check if polymorphisms in these genes might be associated with celiac disease as well. Their work is reported in the January 18, 2011 issue of The American Journal of Gastroenterology.



    Celiac.com Sponsor:




    They sequenced the DNA of 504 unrelated Italian children and adolescents with celiac disease and 256 healthy controls. They were looking for two particular polymorphisms in each gene, as these were already known to be associated with immune disorders. They did find differences in the frequency of the different individual alleles between celiac patients and controls, but these differences did not reach the levels of statistical significance. The combination of both NALP1 variants together, however, was significantly more common in study participants with celiac.

    NALP1 and NALP3 assemble the inflammasome by inciting the expression of the proinflammatory cytokine interleukin-1β , which in turn promotes autoreactive T cell function. The authors suggest that perhaps people with altered levels of responsiveness to interleukin-1β might be predisposed to autoimmunity. More work is needed to elucidate the role these NALP proteins might play in the intestinal damage that occurs in celiac disease.

    Source:


    User Feedback

    Recommended Comments

    There are no comments to display.



    Join the conversation

    You are posting as a guest. If you have an account, sign in now to post with your account.
    Note: Your post will require moderator approval before it will be visible.

    Guest
    Add a comment...

    ×   Pasted as rich text.   Paste as plain text instead

      Only 75 emoji are allowed.

    ×   Your link has been automatically embedded.   Display as a link instead

    ×   Your previous content has been restored.   Clear editor

    ×   You cannot paste images directly. Upload or insert images from URL.


  • About Me

    Diana received her B.A. in Biochemistry from the University of Pennsylvania, and then a Ph.D. in Cell Biology and Genetics from Cornell. Now she is a freelance science writer and editor in White Plains, New York.  Her son was diagnosed with celiac disease in 2006, at the age of five, and she has been keeping her family healthy by feeding them gluten free treats ever since.

  • Celiac.com Sponsor:

  • Forum Discussions

    My husband and I flew from the Michigan cold to the California sunshine yesterday. There were several delays making the trip 12 hours instead of 6. In the meantime, I ate shrimp cocktail and enjoyed a glass of wine. My hubby (gluten-free DF...
    Hello All, first time poster here. I have been going through the process of getting tested, and get my biopsy results from the Doctor on Monday (I called - but they wouldn't give them to me over the phone 🤔).  This whole time I've been...
    In Europe they don't have to mention the origin of the starch if the gluten content is 20ppm or lower as most celiacs can handle that small amount of gluten. However, some celiacs (like me) can't even handle that tiny amount. 
×
×
  • Create New...