The genetics of the thyroid stimulating hormone receptor: history and relevance.

ABSTRACT:

Background

The thyroid stimulating hormone receptor (TSHR) is the key regulator of thyrocyte function. The gene for the TSHR on chromosome 14q31 has been implicated as coding for the major autoantigen in the autoimmune hyperthyroidism of Graves' disease (GD) to which T cells and autoantibodies are directed.

Summary

The TSHR is a seven-transmembrane domain receptor that undergoes complex posttranslational processing. In this brief review, we look at the genetics of this important autoantigen and its influence on a variety of tissue functions in addition to its role in the induction of GD.

Conclusions

There is convincing evidence that the TSH receptor gene confers increased susceptibility for GD, but not Hashimoto's thyroiditis. GD is associated with polymorphisms in th

SUBMITTER: Davies TF 

PROVIDER: S-EPMC2935345 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature