The etiology of autoimmune thyroid disease: A story of genes and environment

Tomer, Yaron; Huber, Amanda K.

doi:10.1016/j.jaut.2009.02.007

Cited by 310 publications

(257 citation statements)

References 183 publications

(158 reference statements)

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“…AITD include two related disorders: GD and the more common Hashimoto's thyroiditis (HT). GD and HT have very different clinical phenotypes, the former resulting, as a rule, in thyroid hyperfunction due to thyroid-stimulating TSH receptor antibodies, the latter in follicular cell damage (mainly cell-mediated), but share common immunogenetic factors [27]. Linkage of HLA susceptibility genes with AITD have only been confirmed in some ethnic groups suggesting that the HLA locus has only a minor influence on the overall genetic predisposition [28].…”

Section: Autoimmune Thyroid Diseasesmentioning

confidence: 99%

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The soluble CTLA-4 receptor and its role in autoimmune diseases: an update

Saverino

Simone

Bagnasco

et al. 2010

Autoimmun Highlights

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CTLA-4, initially described as a membranebound molecule, is a costimulatory receptor transducing a potent inhibitory signal. Increasing evidence shows the CTLA-4 gene to be an important susceptibility locus for autoimmune endocrinopathies and other autoimmune disorders. A soluble form of cytotoxic T-lymphocyte-associated antigen-4 (sCTLA-4) has been established and shown to possess CD80/CD86 binding activity and in vitro immunoregulatory functions. sCTLA-4 is generated by alternatively spliced mRNA. Whereas low levels of sCTLA-4 are detected in normal human serum, increased serum levels are observed in several autoimmune diseases (e.g. Graves’ disease, myasthenia gravis, systemic lupus erythematosus, type 1 diabetes, systemic sclerosis, coeliac disease, autoimmune pancreatitis and primary biliary cirrhosis). The biological significance of increased sCTLA-4 serum levels is not fully clarified yet. On the one hand, it can be envisaged that sCTLA-4 specifically inhibits early T-cell activation by blocking the interaction of CD80/CD86 with the costimulatory receptor CD28. On the other hand, higher levels of sCTLA-4 could compete for the binding of the membrane form of CTLA-4 with CD80/CD86 in the later phases of T-lymphocyte activation, causing a reduction in inhibitory signalling. This double-edged nature of sCTLA-4 to block the binding of CD28 to CD80/CD86 may result in different outcomes during the clinical course of an autoimmune disease.

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Section: Autoimmune Thyroid Diseasesmentioning

confidence: 99%

“…Linkage and association of the CTLA-4 exon 1 polymorphism with GD, and to lesser extent with HT, has been found in several populations, although there seems to be some inconsistency, probably due to population heterogeneity [11,17,27,[30][31][32][33] (Table 1).…”

Section: Autoimmune Thyroid Diseasesmentioning

confidence: 99%

The soluble CTLA-4 receptor and its role in autoimmune diseases: an update

Saverino

Simone

Bagnasco

et al. 2010

Autoimmun Highlights

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“…38,39 The retrovirus, being able to integrate in the cellular genome, can participate in the development of autoimmune disease, either through the expression of foreign antigens through alteration of expression of autoantigen or through the unbalance of subpopulations of serum lymphocytes. [40][41][42] Some evidences relate HTLV-1 infection as a possible pathogenic factor in the autoimmune thyroid diseases.…”

Section: Autoimmune Thyroid Diseasesmentioning

confidence: 99%

Endocrine and metabolic disorders in HTLV-1 infected patients

Alves¹,

Dourado²

2010

Braz J Infect Dis

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Human T-cell leukemia virus type 1 (HTLV-1) infection is endemic in Japan and several countries in South America, Caribbean and Africa. Endocrine and metabolic disorders have been variably reported to be associated with human T-cell leukemia virus type 1 (HTLV-1) infection. Therefore, the aim of this article was to critically evaluate the current knowledge of the endocrine and metabolic disorders associated with HTLV-1 infection. The literature search used PubMed, Web of Science, and LILACS databases in the past 10 years, utilizing, in various combinations, the following keywords: HTLV-1, adult T-cell leukemia, diabetes mellitus, GLUT-1, osteoporosis, hypercalcemia, autoimmune thyroid disorders, diabetes insipidus, inappropriate antidiuretic hormone secretion; pseudohypoparathyroidism; pseudopseudohypoparathyroidism. The proven endocrine manifestations of the HTLV-1 infection are calcium disorders which occur in some patients with acute HTLV-1/Adult T-cell leukemia/lymphoma. The few reports about thyroid, parathyroid, antidiuretic hormone and diabetes mellitus are insuffi cient to prove a causal association with HTLV-1 infection. The evidence for an association between endocrine disorders and HTLV-1 infection in general, and in asymptomatic patients is lacking. Given all these uncertainties, the endocrine expression of the HTLV-1 infection composes a promising research line for understanding the pathophysiology of this infection.

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“…A utoimmune thyroid diseases (AITD) are common autoimmune disorders in endocrinologic system, affecting about 5% of overall population (1). AITD is characterized by immune imbalance and autoantibodies towards thyroid.…”

Section: Introductionmentioning

confidence: 99%

Association between C1q gene polymorphisms and autoimmune thyroid diseases

Yao

et al. 2017

Arch. Endocrinol. Metab.

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Objective: In the present study, we aimed to assess the associations of C1q gene polymorphisms with autoimmune thyroid diseases (AITD) susceptibility. Subjects and methods: A set of 1,003 AITD patients (661 with Graves' disease and 342 with Hashimoto's thyroiditis) and 880 ethnicallyand geographically-matched controls from Chinese Han population were included. Five common single nucleotide polymorphisms (SNPs) (rs294185, rs292001, rs682658, rs665691 and rs294179) in C1q gene locus were genotyped. Frequencies of genotypes and alleles were compared between patients and controls, and haplotype analysis was also performed. Results: There was no statistically significant difference between AITD patients and controls in the frequencies of alleles of rs294185 (P = 0.41), rs292001 (P = 0.71), rs682658 (P = 0.68), rs665691 (P = 0.68) and rs294179 (P = 0.69). There was also no statistically significant difference between AITD patients and controls in the frequencies of genotypes of rs294185 (P = 0.72), rs292001 (P = 0.89), rs682658 (P = 0.83), rs665691 (P = 0.90) and rs294179 (P = 0.43). Stratified analyses showed that none of those five SNPs in C1q gene were associated with Graves' disease or Hashimoto's thyroiditis (all P values > 0.05). Haplotype analysis revealed that there were no obvious genetic associations of C1q gene polymorphisms with AITD susceptibility. Conclusions: We, for the first time, identified the associations between C1q gene SNPs and AITD, and our findings suggested that five common SNPs in C1q gene were not associated with AITD susceptibility in Chinese Han population. Arch Endocrinol Metab. 2017;61(3):337-42.

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The etiology of autoimmune thyroid disease: A story of genes and environment

Cited by 310 publications

References 183 publications

The soluble CTLA-4 receptor and its role in autoimmune diseases: an update

The soluble CTLA-4 receptor and its role in autoimmune diseases: an update

Endocrine and metabolic disorders in HTLV-1 infected patients

Association between C1q gene polymorphisms and autoimmune thyroid diseases

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