Molecular biomarkers for celiac disease: Past, present and future

Abstract

Celiac disease (CeD) is a complex immune‐mediated disorder that is triggered by dietary gluten in genetically predisposed individuals. CeD is characterized by inflammation and villous atrophy of the small intestine, which can lead to gastrointestinal complaints, malnutrition, and malignancies. Currently, diagnosis of CeD relies on serology (antibodies against transglutaminase and endomysium) and small‐intestinal biopsies. Since small‐intestinal biopsies require invasive upper‐endoscopy, and serology cannot predict CeD in an early stage or be used for monitoring disease after initiation of a gluten‐free diet, the search for non‐invasive biomarkers is ongoing. Here, we summarize current and up‐and‐coming non‐invasive biomarkers that may be able to predict, diagnose, and monitor the progression of CeD. We further discuss how current and emerging techniques, such as (single‐cell) transcriptomics and genomics, can be used to uncover the pathophysiology of CeD and identify non‐invasive biomarkers.