Genetic developments in autoimmune thyroid disease: an evolutionary process

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

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The identification of genes placing individuals at an increased risk for the development of autoimmune thyroid disease (AITD) has been a slow process. However, over the last 20 years or so real progress has been made with the mapping of novel loci, via a number of different approaches. First, through the use of traditional immunological methods, Human Leucocyte Antigen (HLA)/Major Histocompatibility Complex (MHC) was the first gene region to be associated with AITD and consistent replications have been reported. Second, the CTLA-4 gene region on 2q33 was the first non-MHC replicated locus to be primarily identified using the candidate gene method. Third, family-based linkage studies led to the mapping of a new type 1 diabetes locus, the PTPN22 gene, which has subsequently been independently replicated as a susceptibility gene for Graves' disease (GD). Fourth, despite many unsuccessful attempts at implicating the TSHR gene as a susceptibility locus for GD, a recent approach of 'tagging' all the common variation within the gene has led to its identification as the first GD specific locus. Moreover, the use of tag single nucleotide polymorphisms (SNPs) has also been used to implicate the recently identified type 1 diabetes locus, CD25 as a susceptibility gene for GD. Finally, large scale, ongoing genome-wide association studies in multiple autoimmune diseases (AID) states, including AITD seem likely to lead to the identification of additional MHC and non-MHC susceptibility loci. © 2007 The Authors.

Keywords:cytotoxic T lymphocyte antigen 4, HLA antigen, interleukin 2 receptor alpha, autoimmune thyroiditis, chromosome 2q, CTLA 4 gene, gene, gene identification, gene locus, gene mapping, genetic association, genetic linkage, genetic risk, genetic susceptibility, genetic variability, genome analysis, Graves disease, human, insulin dependent diabetes mellitus, major histocompatibility complex, priority journal, ptpn22 gene, review, single nucleotide polymorphism, TSHR gene, Autoimmune Diseases, HLA Antigens, Humans, Polymorphism, Single Nucleotide, Risk Factors, Thyroid Diseases
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22620
Deposited On:12 Mar 2016 15:49

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