Recommendations to report and interpret HLA genetic findings in coeliac disease

José Antonio Garrote, Eduardo Arranz, José Ramón Bilbao, Fernando Fernández‐Bañares, J Morales Jiménez, Teresa Perucho, Eva Ruiz-Casares, Félix Sánchez‐Valverde

Revista Española de Enfermedades Digestivas · 2018 · 18 citations · 0 references

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Abstract

Coeliac disease (CD) is a chronic autoimmune enteropathy triggered by gluten and related prolamines in genetically predisposed individuals. Although CD is a polygenic disease, there is a strong association with genes of the human leukocyte antigen (HLA) region. Most patients present the HLA-DQ2 heterodimer, specifically the DQ2.5 isoform, which is present in around 90-96% of patients of European ancestry.