Table 2.

Risk of Developing Celiac Disease Based on HLA Diplotype

HLA-DQ2/-DQ8 Diplotype 1Risk 1
DQ2+DQ81:7 (14.3%)
DQ2+DQ2 or DQ2 homozygous+DQB1*02 21:10 (10%)
DQ8+DQ8 31:12 (8.4%) 3
DQ8+DQB1*02 21:24 (4.2%)
DQB1*02+DQB1*02 21:26 (3.8%)
DQ2+non-risk haplotype1:35 (2.9%)
DQ8+non-risk haplotype1:89 (1.1%)
Population risk1:100 (1%)
DQB1*02 2+non-risk haplotype1:210 (0.5%)
DQA1*05 2+non-risk haplotype1:1842 (0.05%)
No HLA-DQA/-DQB celiac susceptibility alleles1:2518 (<0.04%)
1.

From Megiorni et al [2009] for all diplotypes included except DQ8+DQ8

2.

A half-DQ2 allele

3.

From: Celiac Disease

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.