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The frequency of HLA-DQ7 in patients at risk of coeliac disease: A haplotype to be reckoned with for screening?

Human immunology - 1 Nov 2024

Rouvroye M D, Roos A, Bergkamp F, Haagen I A, van der Pol P, Neefjes-Borst E A, Bouma G, Bontkes H J

Abstract excerpt

HLA-DQ2 and -DQ8 carriers are genetically predisposed to develop coeliac disease (CD). Testing negative for HLA-DQ2/DQ8 has a high negative predictive value. Full HLA-DQ genotyping as well as tests only typing for HLA-DQ2/DQ8 are therefore used for screening at-risk populations. However, HLA-DQ7 positive and HLA-DQ2/DQ8 negative CD patients have been described in various populations. In this study we examine the...

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PMID: 39423728
DOI: 10.1016/j.humimm.2024.111158

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