Abstract
Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA1*05:01, DQB1*02:01) or trans (DQA1*05:05, DQB1*02:02) configuration and HLA-DQ8 (DQA1*03:01, DQB1*03:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA-distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA-DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA-DQ8. Interestingly, the 9 (5.8%) patients lacking HLA-DQ2.5 and HLA-DQ8 carried HLA-DQA1*02:01 and -DQB1*02:02 (HLA-DQ2.2). Therefore, HLA-DQ2.2 should be included as an important HLA-type related to CD.
MeSH terms
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Alleles
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Biomarkers / blood
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Biomarkers / metabolism
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Celiac Disease / diagnosis
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Celiac Disease / genetics
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Celiac Disease / immunology
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Celiac Disease / metabolism*
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Child
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Cohort Studies
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Exons
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Female
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Genetic Association Studies
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Genetic Predisposition to Disease
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HLA-DQ Antigens / blood
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HLA-DQ Antigens / genetics
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HLA-DQ Antigens / metabolism*
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HLA-DQ alpha-Chains / blood
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HLA-DQ alpha-Chains / genetics
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HLA-DQ alpha-Chains / metabolism*
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HLA-DQ beta-Chains / blood
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HLA-DQ beta-Chains / genetics
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HLA-DQ beta-Chains / metabolism*
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Humans
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Leukocytes / immunology
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Leukocytes / metabolism*
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Male
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Netherlands
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Prospective Studies
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Protein Isoforms / blood
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Protein Isoforms / genetics
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Protein Isoforms / metabolism
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Retrospective Studies
Substances
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Biomarkers
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HLA-DQ Antigens
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HLA-DQ alpha-Chains
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HLA-DQ beta-Chains
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HLA-DQ2 antigen
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HLA-DQ8 antigen
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HLA-DQA1 antigen
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HLA-DQB1 antigen
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Protein Isoforms