Autoimmunity in thyroid disease

Collins, Joanne; Gough, Stephen

doi:10.1007/s00259-002-0848-8

Cited by 41 publications

(22 citation statements)

References 76 publications

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“…The definitive etiology for this breakdown in immune tolerance remains elusive, although both genetic and environmental factors have been postulated (1)(2)(3)(4)(5). The only consistent associations with AITD, however, are with the human leukocyte antigen (HLA) class II region on chromosome 6p21 (specifically in the DR3 region) and the cytotoxic T lymphocyte-associated-4 region on chromosome 2q33 (2-4, 6, 7).…”

Section: T He Autoimmune Thyroid Diseases (Aitds)mentioning

confidence: 95%

Common Allelic Variants of Exons 10, 12, and 33 of the Thyroglobulin Gene Are Not Associated with Autoimmune Thyroid Disease in the United Kingdom

Collins¹,

Heward²,

Howson³

et al. 2004

The Journal of Clinical Endocrinology & Metabolism

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Thyroglobulin (Tg) is a major autoantigen for autoimmune thyroid disease (AITD). The Tg gene (Tg) has been mapped to chromosome 8q24, which has recently been linked in two independent studies to AITD. Association of specific alleles of microsatellite markers within Tg itself supports a role for Tg as a good candidate susceptibility locus for AITD. Resequencing of the Tg exons has led to the identification of a number of novel single nucleotide polymorphisms, four of which have been reported to be associated with AITD. Resequencing of Tg in Caucasian subjects in the United Kingdom (UK) has confirmed the presence of four single nucleotide polymorphisms in exons 10, 12, and 33. However, in the largest case-control association study to date with adequate power to detect the reported effect if present, we found no evidence for association of the Tg DNA variants with AITD in the UK. These data suggest that the recently identified single nucleotide polymorphisms do not have a causal role for AITD in the UK. At this stage, we cannot exclude the Tg region as harboring a susceptibility locus for AITD, and only large scale sequencing and fine mapping of the region, including neighboring genes, will allow us to identify any potential causal variants within this region.

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Section: T He Autoimmune Thyroid Diseases (Aitds)mentioning

confidence: 95%

Common Allelic Variants of Exons 10, 12, and 33 of the Thyroglobulin Gene Are Not Associated with Autoimmune Thyroid Disease in the United Kingdom

Collins¹,

Heward²,

Howson³

et al. 2004

The Journal of Clinical Endocrinology & Metabolism

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“…A study of twin cohorts indicated that around 80% of the susceptibility to AITD is the result of genetic factors [5]. Among several different chromosomal regions and candidate genes that are believed to be associated with AITD [6,7], the gene for cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) on chromosome 2q33 is a strong genetic factor in susceptibility to AITD [8,9].…”

Section: Introductionmentioning

confidence: 99%

49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with autoimmune thyroid disease

et al. 2009

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“…Because AITD have a multifactorial and complex genetic etiology, the identification of susceptibility genes is difficult. Based on experimental and functional analyses, several genes have been proposed as candidate, susceptibility, or immunoregulatory genes for AITD (5). Genome wide screening and linkage analyses have identified several chromosomal regions which are linked to AITD (3).…”

Section: Introductionmentioning

confidence: 99%

Immunoregulatory and Susceptibility Genes in Thyroid and Polyglandular Autoimmunity

Dittmar

Kahaly

2005

Thyroid

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The etiology of autoimmune thyroid diseases (AITD) is based on genetic and nongenetic factors. Genome-wide screening and linkage analyses have identified several chromosomal regions that are linked to AITD. These are HT-1 (on chromosome 13q33) and HT-2 (chromosome 12q22) for Hashimoto's thyroiditis (HT), and GD-1 (chromosome 14q31), GD-2 (chromosome 20q11.2), and GD-3 (chromosome Xq21) for Graves' disease (GD). Several genes have been proposed as susceptibility or immunoregulatory genes. Most promising genes are those of the major histocompatibility complex (MHC) complex (chromosome 6), the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene (chromosome 2), the CD40 (chromosome 20), the thyroglobulin gene (chromosome 8), and the autoimmune regulator gene (chromosome 21). This review summarizes evidence for pathogenetic involvement of several of these genes in various forms of autoimmune thyropathies. Most genetic data refer to GD, whereas less data are available for HT and thyroid-associated ophthalmopathy. Scarce data refer to AITD within the autoimmune polyglandular syndromes I and II. The realization of family studies in large samples from different populations might provide further insight in the genetic contribution to AITD. Data are also needed on the interaction among susceptibility genes. Finally, additional functional studies are warranted to clarify the possible role of allelic variants in the underlying pathogenic mechanisms of AITD.

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Autoimmunity in thyroid disease

Cited by 41 publications

References 76 publications

Common Allelic Variants of Exons 10, 12, and 33 of the Thyroglobulin Gene Are Not Associated with Autoimmune Thyroid Disease in the United Kingdom

Common Allelic Variants of Exons 10, 12, and 33 of the Thyroglobulin Gene Are Not Associated with Autoimmune Thyroid Disease in the United Kingdom

49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with autoimmune thyroid disease

Immunoregulatory and Susceptibility Genes in Thyroid and Polyglandular Autoimmunity

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