Related Experiment Video
Updated: Feb 1, 2026

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
Published on: July 5, 2022
When type 1 diabetes meets celiac disease
1Blood Transfusion Centre of Slovenia, Tissue Typing Center, Ljubljana, Slovenia.
Insights
Type 1 diabetes (T1D) and celiac disease (CD) share genetic risk factors, particularly HLA-DQ2 and DQ8. Specific HLA genotypes, like DR3-DQ2/DR3-DQ2, significantly increase the likelihood of developing both autoimmune conditions concurrently.
Area of Science:
- Immunogenetics
- Autoimmune Diseases
Background:
- Type 1 diabetes (T1D) and celiac disease (CD) are autoimmune disorders that can co-occur.
- Human Leukocyte Antigen (HLA) alleles, specifically HLA-DQ2 and HLA-DQ8, are established genetic risk factors for both T1D and CD.
Purpose of the Study:
- To investigate the HLA genetic profiles of patients with co-existing T1D and CD.
- To identify specific HLA genotypes associated with the simultaneous development of T1D and CD.
Main Methods:
- Analysis of HLA allele frequencies and ancestral haplotypes in Slovenian patients with T1D, CD, and co-existing T1D+CD.
- Comparison of HLA profiles between patient groups to determine shared and distinct genetic predispositions.
Main Results:
- Patients with co-existing T1D and CD (T1D+CD) exhibited HLA profiles more similar to T1D patients than CD patients.
- The HLA-DQ2 allele conferred a higher risk for developing both T1D and CD compared to HLA-DQ8.
- The ancestral haplotype A1-B8-DR3-DQ2-MICA*008 (8.1AH) was over-represented in Slovenian T1D+CD patients, with B*08 being a significant independent risk factor.
- Specific genotypes, DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8, were associated with increased risk for CD in T1D patients and T1D in CD patients, respectively.
Conclusions:
- HLA-DQ2 is a significant risk factor for the co-occurrence of T1D and CD.
- Certain HLA genotypes, particularly DR3-DQ2/DR3-DQ2 and DR3-DQ2/DR4-DQ8, identify individuals at higher risk for developing both autoimmune diseases.
- Consideration of targeted screening for the second disease in patients with the first, especially those with low-risk genotypes, may be beneficial.
Abstract:
Type1 diabetes (T1D) and celiac disease (CD) may occur together. HLA-DQ8 and DQ2 are key genetic risk factors in both. Overall, the patients with co-existing T1D and CD (T1D+CD) were shown to have HLA profile more similar to patients with T1D than those with CD. Slovenian patients with both diseases had the frequency of DQB1*02:01 (86.5%) very similar to patients with CD (83.8%) in contrast to the significantly different frequency of the same allele in patients with T1D (52.24%). The DQ2 conveyed higher risk for developing both T1D and CD in the same individual than DQ8. Additionally, the A1-B8-DR3-DQ2-MICA*008 ancestral haplotype (8.1AH) was over-represented in Slovenian (T1D+CD) patients, where B*08 was the most significant independent risk factor. Moreover, C*07, that is also present in the 8.1AH, could have an impact on the innate immunity rout of this susceptibility through interaction with KIRs. In the genotype context, the CD risk in T1D patients was associated with DR3-DQ2/DR3-DQ2, whereas the risk for T1D in CD patients was associated with DR3-DQ2/DR4-DQ8. Less frequent screening for the second disease related antibodies could be considered in patients with the first disease and low risk genotype for obtaining the second-one. Individuals carrying high risk DR3-DQ2/DR3-DQ2 or DR3-DQ2/DR4DQ8 are more likely to develop both autoimmune diseases together than individuals carrying any other HLA genotypes.
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