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Risk of pediatric celiac disease according to HLA haplotype and country
Edwin Liu1, Hye-Seung Lee, Carin A Aronsson
1From the Digestive Health Institute, Children's Hospital Colorado (E.L.), and the Barbara Davis Center (E.L., M.J.R., G.S.E.), University of Colorado Denver, Aurora; the Pediatrics Epidemiology Center, University of South Florida, Tampa (H.-S.L.); the Diabetes and Celiac Disease Unit, Department of Clinical Sciences, Lund University, Malmo, Sweden (C.A.A., D.A.); Pacific Northwest Diabetes Research Institute, Seattle (W.A.H.); Dr. von Hauner Children's Hospital, Ludwig Maximilian University, Munich (S.K.), the Center for Regenerative Therapies Dresden, Technische Universitaet Dresden, Dresden (E.B.), and Forschergruppe Diabetes, Helmholz Zentrum München, Neuherberg (E.B.) - all in Germany; the School of Clinical Sciences, University of Bristol, Bristol, United Kingdom (P.J.B.); and the Department of Pediatrics, University of Turku, Turku University Hospital, Turku, Finland (V.S.).
Children with the HLA haplotype DR3-DQ2 face a significantly higher risk of developing celiac disease autoimmunity and celiac disease, particularly those who are homozygotes. Environmental factors, such as country of residence, may also influence celiac disease risk.
Area of Science:
- Pediatric immunology
- Gastroenterology
- Genetics
Background:
- HLA haplotype DR3-DQ2 and DR4-DQ8 are linked to increased celiac disease risk.
- Serum antibodies against tissue transglutaminase (tTG) are present in nearly all children with celiac disease.
Purpose of the Study:
- To prospectively investigate the development of celiac disease autoimmunity and celiac disease in children with specific HLA haplotypes.
- To quantify the risk associated with HLA DR3-DQ2 homozygosity and heterozygosity.
Main Methods:
- A prospective study of 6403 children with HLA haplotype DR3-DQ2 or DR4-DQ8 from birth across four countries.
- Celiac disease autoimmunity defined by two positive tTG antibody tests (≥3 months apart).
- Celiac disease defined by biopsy or persistently high tTG antibodies.
Main Results:
- Celiac disease autoimmunity developed in 12% of children over a median follow-up of 60 months.
- Children with DR3-DQ2 homozygosity had a 5.70-fold increased hazard ratio for celiac disease autoimmunity compared to lowest-risk genotypes.
- Residence in Sweden was independently associated with a 1.90-fold increased risk of celiac disease autoimmunity.
Conclusions:
- Children with HLA haplotype DR3-DQ2, especially homozygotes, are at high risk for early-onset celiac disease autoimmunity and celiac disease.
- The elevated risk in Sweden underscores the need to investigate environmental factors in celiac disease development.
- Findings support early monitoring for children with high-risk HLA genotypes.
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