The Genetics of Autoimmune Thyroid Disease

Vaidya, Bijayeswar; Kendall-Taylor, Pat; Pearce, Simon H. S.

doi:10.1210/jc.2002-020492

Cited by 164Thyroid Disorders and TreatmentsOphthalmology and Eye DisordersThyroid Cancer Diagnosis and Treatment

The Genetics of Autoimmune Thyroid Disease

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Vaidya, Bijayeswar, Kendall-Taylor, Pat, Pearce, Simon H. S.·2002·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2002-020492

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Abstract

Autoimmune thyroid disease (AITD) comprises a series of interrelated conditions including hyperthyroid Graves’ disease (GD), Hashimoto’s (goitrous) thyroiditis, atrophic autoimmune hypothyroidism, postpartum thyroiditis (PPT), and thyroid-associated orbitopathy (TAO). These different manifestations of AITD may occur synchronously, most frequently as the combination of GD and TAO. Different AITD phenotypes may also occur sequentially in the same individual, for instance, spontaneous hypothyroidism following an episode of GD or PPT. This clustering of different AITD phenotypes within an individual suggests that these conditions have a common pathophysiological basis. Together, AITDs are the commonest autoimmune disorders in the population, affecting between 2% and 4% of women and up to 1% of men (1–3). Furthermore, AITD prevalence increases with advancing age, with more than 10% of subjects over 75 yr of age having biochemical evidence of mild (subclinical) hypothyroidism, the majority of which is due to autoimmune disease (2, 3). A widely accepted model for the pathogenesis of AITD suggests that each subject has a background inherited predisposition to autoimmunity, with additional environmental and hormonal factors that trigger or contribute to the development of disease. In support of this model, there is good evidence that both cigarette smoking and adverse psychosocial events are associated with the development of GD (4–6). Similarly, the female preponderance of human AITDs (1), the modulation of animal models of AITD with gonadal steroids (7), the amelioration of GD during pregnancy, and the occurrence of PPT all support the important role of sex steroids in these disorders. In contrast, there is little convincing evidence that infective agents, which are thought of as classical environmental precipitants for autoimmunity, trigger AITDs (8). A recent statistical model, based on data from a large twin study, found that 79% of the predisposition to GD is due to genetic factors, with only 21% due to nongenetic (environmental and hormonal) influences (9). This study has profound implications for the study of AITD and suggests that if we are to make progress in understanding the molecular basis for AITDs, the elucidation of the genetic factors is most likely to hold the key. Recent years have seen a flurry of activity in this research field, and in this article we will review these advances in understanding about the genetic basis of AITDs.

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Polymorphism of CTLA-4 is known to increase the risk of autoimmune susceptibility including Graves' disease, but how it interacts with ICPis is unclear.
“Polymorphism of CTLA-4 is known to increase the risk of autoimmune susceptibility including Graves’ disease, but how it interacts with ICPis is unclear [32,33,34].”
From Graves’ Disease during Immune Checkpoint Inhibitor Therapy (A Case Series and Literature Review) (2021) · cites this paper as [33]

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Evidence for a Graves’ Disease Susceptibility Locus at Chromosome Xp11 in a United Kingdom Population1
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Lack of an association between alleles of interleukin-1 alpha and interleukin-1 receptor antagonist genes and Graves' disease in a North American Caucasian population.
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Thyroid Dysfunction in Individuals With Down Syndrome
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Immunogenetics of autoimmune thyroid diseases: a comprehensive review
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Smoke Exposure Is Associated with a Lower Prevalence of Serum Thyroid Autoantibodies and Thyrotropin Concentration Elevation and a Higher Prevalence of Mild Thyrotropin Concentration Suppression in the Third National Health and Nutrition Examination Survey (NHANES III)
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Graves’ Disease during Immune Checkpoint Inhibitor Therapy (A Case Series and Literature Review)
Peiffert, M., Cugnet-Anceau, C., Dalle, S., Chikh, K., Assaad, S., Disse, E., Raverot, G., Borson-Chazot, F., & Abeillon-du Payrat, J. (2021) · Cancers · doi:10.3390/cancers13081944 · Cited by 33 · see citing works
CTLA-4 CT60(rs3087243) polymorphism and autoimmune thyroid diseases susceptibility: a comprehensive meta-analysis
Ni, J., Qiu, L.-J., Zhang, M., Wen, P.-F., Ye, X.-R., Liang, Y., Pan, H.-F., & Ye, D.-Q. (2014) · Endocrine Research · doi:10.3109/07435800.2013.879167 · Cited by 28 · see citing works

Authors: Vaidya, B., Kendall-Taylor, P., & Pearce, S. H. S.
Affiliations: Newcastle University (GB)
Corresponding author: Pearce, Simon H. S.
ORCID: Pearce, Simon H. S.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2002-12
Volume: 87
Issue: 12
Pages: 5385-5397
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2002-020492
OpenAlex: W2032899584
Cited by: 164
References: 199
Citations by year: 2026: 1 · 2025: 3 · 2024: 1 · 2023: 4 · 2022: 3 · 2021: 5 · 2020: 4 · 2019: 5 · 2018: 5 · 2017: 2 · 2016: 5 · 2015: 6 · 2014: 6 · 2013: 6 · 2012: 4
FWCI: 8.56
Type: journal article
Language: en
Open access: green
doi.org
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Newcastle University ePrints (Newcastle Univesity)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
Health Sciences › Medicine › Pathology and Forensic Medicine › Ophthalmology and Eye Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Cancer Diagnosis and Treatment
Keywords: autoimmune thyroid disease, Graves' disease, Hashimoto's thyroiditis, postpartum thyroiditis, Graves' ophthalmopathy, genetic susceptibility, sex steroids, environmental triggers, twin studies, subclinical hypothyroidism, autoimmune disease pathogenesis, cigarette smoking, psychosocial stress, genetic susceptibility loci, disease phenotypes
MeSH terms: Abatacept, Antigens, Differentiation, Autoimmune Diseases, Humans, Genetic Linkage, Major Histocompatibility Complex, Molecular Biology, Thyroid Diseases, Antigens, CD, Immunoconjugates, Genetic Predisposition to Disease, CTLA-4 Antigen

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The Genetics of Autoimmune Thyroid Disease

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