Jump to content
  • Sign Up
  • Join Our Community!

    Do you have questions about celiac disease or the gluten-free diet?

  • Jefferson Adams
    Jefferson Adams

    Researchers Look at Influence of HLA Genes on Pediatric Celiac Disease

      This study puts the rate of celiac disease in first-degree relatives at about five percent of total patients.


    Caption: Madrid. Image: CC BY 2.0--Roller Coaster Philosophy

    Celiac.com 07/29/2019 - Gluten and related prolamines trigger celiac disease in people who are genetically susceptible. The role of HLA-DQ genotypes is not well understood. A team of researchers recently set out to investigate the influence of HLA-DQ genotypes in clinical, serological and histological features related to celiac disease.

    The research team included Eva Martínez-Ojinaga, Marta Fernández-Prieto, Manuel Molina, Isabel Polanco, Elena Urcelay and Concepción Núñez. They are variously affiliated with the Servicio de Gastroenterología y Nutrición Pediátrica, Hospital Universitario La Paz in Madrid, Spain; and the Laboratorio de investigación en Genética de enfermedades complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC) in Madrid, Spain. 

    The researchers conducted a retrospective observational study that included 463 Spanish patients with biopsy-proven celiac disease. The team collected clinical, serological, histological and HLA-DQ genetic data from each patient. They considered each patient's family history of celiac disease. 

    They analyzed the data using chi-square tests or the Fisher’s exact test, along with multivariate logistic regression (after adjusting for age and sex) to assess the association between clinical and laboratory parameters with HLA-DQ.

    The team's sample group was 62% females, with 86% showing classical clinical celiac presentation, and 99% showing positive anti-transglutaminase 2/endomysium antibodies. Patients averaged about 30 months old at disease onset. 

    This study puts the rate of celiac disease in first-degree relatives at about five percent of total patients, while HLA-DQ genetics showed increased homozygosity of HLA-DQ2.5 and HLA-DQ8. 

    In the non-celiac disease family history group, an association between delayed disease onset and HLA-DQ8 carriage was observed (p < 0.001), besides an influence of HLA-DQB1*02 gene dosage on clinical presentation and severity of histological damage (after adjusting for age and sex, p = 0.05 and p = 0.02, respectively) and a trend towards presence of specific antibodies (p = 0.09). Due to the small sample size, these associations could not be properly assessed in the group of patients with affected first-degree relatives.

    For people with celiac disease, HLA-DQ genotypic frequency varies depending on the close family history of the disease. For people who do not have first-degree relatives with celiac disease, carrying the HLA-DQ2.5 gene with double dose of HLA-DQB1*02 seems correspond to classical clinical celiac presentation and more severe gut damage.

    Clearly more study is needed to get a better picture of the connections between HLA-DQ genotypes and particular manifestations of celiac disease. However, this study offers one more piece of the celiac disease and genetics puzzle. Stay tuned as more information becomes available.

    Read more in BMC Gastroenterology 201919:91


    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

    Jefferson Adams earned his B.A. and M.F.A. at Arizona State University, and has authored more than 2,000 articles on celiac disease. His coursework includes studies in biology, anatomy, medicine, science, and advanced research, and scientific methods. He previously served as Health News Examiner for Examiner.com, and devised health and medical content for Sharecare.com. Jefferson has spoken about celiac disease to the media, including an appearance on the KQED radio show Forum, and is the editor of the book "Cereal Killers" by Scott Adams and Ron Hoggan, Ed.D.

×
×
  • Create New...