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Recommendations to report and interpret HLA genetic findings in coeliac disease
Concepción Núñez1, José Antonio Garrote2, Eduardo Arranz3
1Laboratorio de Genética d Enfermedades Autoinmunes, Hospital Clínico San Carlos, España.
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.
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