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Journal of Thyroid Research
Volume 2012, Article ID 623852, 6 pages
Review Article

New Genetic Insights from Autoimmune Thyroid Disease

Thyroid Research Unit, Mount Sinai School of Medicine, James J. Peters VA Medical Center, New York, NY 10468, USA

Received 21 September 2011; Accepted 12 December 2011

Academic Editor: Juan Carlos Galofré

Copyright © 2012 Terry F. Davies et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The autoimmune thyroid diseases (AITDs) (Graves’ disease and Hashimoto’s thyroiditis) are complex genetic diseases which most likely have more than 20 genes contributing to the clinical phenotypes. To date, the genes known to be contributing fall into two categories: immune regulatory genes (including HLA, CTLA4, PTPN22, CD40, CD25, and FCRL3) and thyroid-specific genes (TG and TSHR). However, none of these genes contribute more than a 4-fold increase in risk of developing one of these diseases, and none of the polymorphisms discovered is essential for disease development. Hence, it appears that a variety of different gene interactions can combine to cause the same clinical disease pattern, but the contributing genes may differ from patient to patient and from population to population. Furthermore, this possible mechanism leaves open the powerful influence of the environment and epigenetic modifications of gene expression. For the clinician, this means that genetic profiling of such patients is unlikely to be fruitful in the near future.