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Updated: Jun 18, 2026
A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022
Screening detects a high proportion of celiac disease in young HLA-genotyped children
Sara Björck1, Charlotte Brundin, Ester Lörinc
1Unit of Diabetes and Celiac Disease, Department of Clinical Sciences, University Hospital MAS, Lund University, Malmö, Sweden.
Insights
Undiagnosed celiac disease is common in Swedish children with specific human leukocyte antigen (HLA) risk genes. Screening identified a high prevalence of tissue transglutaminase autoantibodies (tTGAb) and confirmed celiac disease in 3.5% of children with these genetic predispositions.
Area of Science:
- Pediatric gastroenterology
- Immunogenetics
- Autoimmune diseases
Background:
- Celiac disease is linked to tissue transglutaminase autoantibodies (tTGAb) and specific human leukocyte antigen (HLA) risk alleles (DQB1*02, DQB1*0302).
- Early identification of celiac disease is crucial for managing potential long-term health complications.
Purpose of the Study:
- To determine the prevalence of undiagnosed celiac disease in young children carrying specific HLA risk alleles.
- To assess the diagnostic yield of tTGAb screening in this high-risk pediatric population.
Main Methods:
- A population-based study screened newborns for HLA risk alleles in Sweden.
- Children with HLA-risk alleles (n=1620) and controls (n=1815) were tested for tTGAb at approximately 3 years of age.
- Celiac disease diagnosis was confirmed via intestinal biopsy for positive tTGAb cases.
Main Results:
- 4.5% of children with HLA-risk alleles tested positive for tTGAb, compared to 0% in controls.
- Intestinal biopsies confirmed celiac disease in 3.5% of the screened children with HLA-risk alleles.
- The ratio of clinically diagnosed to screening-detected celiac disease was 1:2.4, indicating significant underdiagnosis.
Conclusions:
- A substantial proportion of clinically undetected celiac disease exists in 3-year-old children with HLA-DQB1*02 and DQB1*0302 in Sweden.
- Routine tTGAb screening in genetically predisposed children may be beneficial for early diagnosis and intervention.
- The high frequency of these HLA risk alleles in the Swedish population underscores the importance of this screening approach.
Background And Aims:
Celiac disease is associated with tissue transglutaminase autoantibodies (tTGAb) and the human leukocyte antigen (HLA)-risk alleles DQB1*02 and DQB1*0302. The aim was to estimate the proportion of undiagnosed celiac disease in children with HLA risk at 3 years of age.
Patients And Methods:
From a population-based HLA-DQ screening study of newborns born between June 2001 and August 2004 in the southern part of Sweden, 6206 children with HLA-risk alleles were identified and asked to participate at a mean 3.3 +/- 0.4 years of age. As controls, 7654 children with HLA-nonrisk alleles were asked to participate. In all, 1620 (26.1%) children with HLA risk and 1815 (23.7%) controls were screened for tTGAb using radioligand-binding assays. Celiac disease was established by intestinal biopsy in children with a confirmed positive tTGAb test.
Results:
Twenty-three children reported already having clinically diagnosed celiac disease and did not participate further. In children with HLA-risk genotypes, 73 of 1620 (4.5%, 95% CI 3.5%-5.5%) were tTGAb-positive compared with none of 1815 from the controls (P < 0.0001). Seventy-one children underwent biopsy (1 refused biopsy and 1 biopsy failed), of whom 56 of 1618 (3.5%, 95% CI 2.6%-4.4%) had damaged intestinal mucosa classified as celiac disease. The ratio between clinically and screening detected celiac disease in this study was 1:2.4 (23:56).
Conclusions:
The proportion of clinically undetected celiac disease may be particularly high among 3-year-old children with HLA-DQB1*02 and DQB1*0302 in Sweden, where these 2 HLA-risk alleles frequently occur.
