Pediatric Celiac Disease: Using HLA Genotype To Help Determine Risk

Dr. Daniel Interview with:
Dr. Daniel Agardh M.D., Ph.D
Department of Pediatrics
Diabetes and Celiac Disease Unit
Skåne University Hospital
Malmo, Sweden,

MedicalResearch: What are the main findings of the study?

Dr. Agardh: In this study, we stratify the risk of celiac disease among children according to their HLA genotype and country of residence. We confirm that HLA-DQ2/2 genotype is the major risk factor for early celiac disease, but also show how the risk differs between the participating countries despite of sharing similar HLA risk. This points to the direction of an interaction between HLA and the environment that eventually lead to an autoimmune response in genetic susceptible children.

MedicalResearch: Were any of the findings unexpected?

Dr. Agardh: The increased risk among the Swedish participants is intriguing and needs to be further explored.

MedicalResearch: What should clinicians and patients take away from your report?

Dr. Agardh: Celiac disease may develop at an early age and is not always clinically evident in young children. This study demonstrates how clinicians who follow celiac patients may use HLA to estimate the risk among first-degree relatives.

MedicalResearch: What recommendations do you have for future research as a result of this study?

Dr. Agardh: Our study highlights the importance of identifying both genetic and non-genetic factors that lead to celiac diease autoimmunity in some but not all children. As TEDDY is a longitudinal prospective study that follows children from birth to 15 years of age at six clinical centers in four different countries using the same study protocol, we have a unique opportunity to identify which factors that are responsible for developing type 1 diabetes, celiac diease, or both disorders. For celiac disease, we will in future studies particular focus on how the diet will affect the micobiota, or vice versa, that might lead to an autoimmune response in the gut.


Risk of Pediatric Celiac Disease According to HLA Haplotype and Country

Edwin Liu, M.D., Hye-Seung Lee, Ph.D., Carin A. Aronsson, M.Sc., William A. Hagopian, M.D., Ph.D., Sibylle Koletzko, M.D., Ph.D., Marian J. Rewers, M.D., M.P.H., George S. Eisenbarth, M.D., Ph.D., Polly J. Bingley, M.D., Ezio Bonifacio, Ph.D., Ville Simell, M.Sc., and Daniel Agardh, M.D., Ph.D. for the TEDDY Study Group

N Engl J Med 2014; 371:42-49
July 3, 2014 DOI: 10.1056/NEJMoa1313977



Last Updated on July 3, 2014 by Marie Benz MD FAAD