Searching for the Autoimmune Thyroid Disease Susceptibility Genes: From Gene Mapping to Gene Function

Yaron Tomer, Terry F. Davies

Research output: Contribution to journalArticle

280 Citations (Scopus)

Abstract

The autoimmune thyroid diseases (AITD) are complex diseases that are caused by an interaction between susceptibility genes and environmental triggers. Genetic susceptibility, in combination with external factors (e.g., dietary iodine), is believed to initiate the autoimmune response to thyroid antigens. Abundant epidemiological data, including family and twin studies, point to a strong genetic influence on the development of AITD. Various techniques have been used to identify the genes contributing to the etiology of AITD, including candidate gene analysis and whole genome screening. These studies have enabled the identification of several loci (genetic regions) that are linked with AITD, and in some of these loci putative AITD susceptibility genes have been identified. Some of these genes/loci are unique to Graves' disease (GD) and Hashimoto's thyroiditis (HT), and some are common to both diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune modifying genes (e.g., human leukocyte antigen, cytotoxic T lymphocyte antigen-4) and thyroid-specific genes (e.g., TSH receptor, thyroglobulin). Most likely these loci interact, and their interactions may influence disease phenotype and severity. It is hoped that in the near future additional AITD susceptibility genes will be identified and the mechanisms by which they induce AITD will be unraveled.

Original languageEnglish (US)
Pages (from-to)694-717
Number of pages24
JournalEndocrine Reviews
Volume24
Issue number5
DOIs
StatePublished - Oct 2003

Fingerprint

Chromosome Mapping
Disease Susceptibility
Thyroid Diseases
Autoimmune Diseases
Hashimoto Disease
Genes
Graves Disease
Genetic Predisposition to Disease
Thyroid Gland
CTLA-4 Antigen
Thyrotropin Receptors
Twin Studies
Genetic Loci
Thyroglobulin
Genetic Association Studies
HLA Antigens
Autoimmunity
Iodine
Genome
Phenotype

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Searching for the Autoimmune Thyroid Disease Susceptibility Genes : From Gene Mapping to Gene Function. / Tomer, Yaron; Davies, Terry F.

In: Endocrine Reviews, Vol. 24, No. 5, 10.2003, p. 694-717.

Research output: Contribution to journalArticle

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