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Graves’ Disease pp 19–41Cite as

The Genetics of Familial and Non-Familial Hyperthyroid Graves’ Disease

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Part of the book series: Endocrine Updates ((ENDO,volume 6))

Abstract

Graves’ disease (GD) is a multifactorial disease that develops as a result of a complex interaction between genetic susceptibility genes and environmental factors (1). Pathologically, the thyroid gland is infiltrated by T cells and B cells reactive with thyroid antigens, including the thyrotropin receptor (TSHR). This infiltration is associated with the production of antibodies which stimulate the thyroid via the TSHR causing hyperthyroidism and diffuse goiter as well as evidence of an ongoing thyroiditis associated with antibodies to thyroglobulin (Tg) and thyroid peroxidase (TPO)(1). Hence, the characterization of GD as autoimmune thyroiditis Type 3 (2). However, the cause of the immune response to thyroid antigens in GD remains unknown. Research into the pathogenesis of GD has focused on the possible precipitating environmental insults (such as infection)(3) and on under-standing the genetic predisposition to the disease. The recent advances in our under-standing of the genetic susceptibility to GD is the focus of this chapter.

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Authors
  1. Yaron Tomer
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  2. Terry F. Davies
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Editors and Affiliations

  1. Autoimmune Disease Unit, Cedars-Sinai Research Institute and U.C.L.A. School of Medicine, Los Angeles, California, USA

    Basil Rapoport M.B., Ch.B.  & Sandra M. McLachlan Ph.D  & 

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Tomer, Y., Davies, T.F. (2000). The Genetics of Familial and Non-Familial Hyperthyroid Graves’ Disease. In: Rapoport, B., McLachlan, S.M. (eds) Graves’ Disease. Endocrine Updates, vol 6. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4407-4_3

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