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Type 1 diabetes associated autoimmunity: natural history, genetic associations and screening
Abstract
CONTEXT: Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur together in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndrome I, autoimmune polyendocrine syndrome II, and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome. EVIDENCE ACQUISITION: Review of the medical literature was performed with particular attention to the natural history, genetic factors, and syndromes associated with T1D, AIT, CD, and AD. EVIDENCE SYNTHESIS: Genetic risk for these diseases overlaps and includes genes within the major histocompatibility complex (MHC) such as the human leukocyte antigens (HLA) DR and DQ alleles and the MHC I-related gene A (MIC-A). Other genes outside of the MHC have been associated with these autoimmune diseases, including the gene encoding the lymphoid tyrosine phosphatase (PTPN22) and the cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene. CONCLUSION: Genetic risk for T1D overlaps with AIT, CD, and AD. Disease risk is associated with organ-specific autoantibodies, which can be used to screen subjects with T1D.
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“An association between T1D and other autoimmune diseases, such as autoimmune thyroid disease, Addison’s disease, celiac disease, and autoimmune gastritis, is well established52.”
From Epidemiology of type 1 diabetes (2010) · cites this paper as [52]
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Metadata
- Authors
- Barker, J. M.
- Affiliations
- University of Colorado Anschutz (US)
- Corresponding author
- Barker, Jennifer M.
- ORCID
- Barker, Jennifer M.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2006-04
- Volume
- 91
- Issue
- 4
- Pages
- 1210-1217
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2036511637
- Cited by
- 350
- References
- 120
- Citations by year
- 2026: 7 · 2025: 6 · 2024: 16 · 2023: 9 · 2022: 13 · 2021: 12 · 2020: 11 · 2019: 13 · 2018: 25 · 2017: 8 · 2016: 12 · 2015: 24 · 2014: 20 · 2013: 28 · 2012: 25
- FWCI
- 14.05
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Allergy and Infectious Diseases (U19AI046374, AI 46374)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK057516, DK 57516, DK 32493, DK32083)
- National Center for Research Resources (RR-00051, RR 00069, M01RR000069)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- type 1 diabetes, autoimmune thyroid disease, celiac disease, Addison's disease, autoimmune polyendocrine syndrome type 1, autoimmune polyendocrine syndrome type 2, genetic risk factors, major histocompatibility complex, HLA-DR, HLA-DQ, PTPN22, CTLA-4, autoantibodies, screening, natural history (disease)
- MeSH terms
- Adrenal Gland Diseases, Animals, Autoimmune Diseases, Celiac Disease, Diabetes Mellitus, Type 1, Genetic Testing, Humans, Risk Factors, Thyroiditis, Autoimmune
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