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Genetics of Celiac Disease

المؤلف:  Joseph A. Murray، Steffen Husby

المصدر:  The New England Journal of Medicine (NEJM)

الجزء والصفحة:  Vol. 394, p. 1423-1425

2026-08-02

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A family history of celiac disease, when obtained, is key to detection. Celiac disease is strongly genetically determined. Beyond the essential HLA types, celiac disease is related to a multitude of genes involved in barrier function, innate immunity, and T-cell activation, including those coding for interleukin-2, interferon-γ, and cytotoxic T lymphocyte antigen 4 (CTLA-4). Clinicians should be aware that the risk of celiac disease for first degree family members (parents, siblings, and children) is 10 to 20%. The risk of celiac disease is increased among patients with other autoimmune diseases — among those with type 1 diabetes, the risk is 7 to 12%; among those with autoimmune thyroid disease, the risk is 5 to 7% ; and among those with autoimmune liver disease, the risk is 5%. Most studies have shown that celiac disease precedes the onset of type 1 diabetes mellitus, but this may depend on the regional strategy for celiac disease detection. Furthermore, the prevalence of celiac disease is increased among patients with Down’s syndrome or Turner’s syn drome (2 to 5%), probably owing to abnormal immune responses related to chromosomal insta bility.