Graves' disease (MIM 27500) is the leading cause of hyperthyroidism worldwide. The prevalence of Graves' disease is quite high (2.7% in women), and there is solid evidence of genetic predisposition. Despite its clinical and scientific significance, Graves' disease is still mysterious in terms of its susceptibility genes or pathophysiological mechanisms. The immune repertoire, being the sum of T and B lymphocytes in a body at any given time, is both a snapshot and a historical record of a person's immune function. Thanks to the power of next-generation sequencing (NGS), massively parallel sequencing of the B cell and T cell receptors suddenly becomes plausible, and opens a door for many creative approaches to study immune related diseases. The ultimate goal of this project is to use both the NGS deep sequencing and immune repertoire experiment to perform Graves' disease sub-group genetic fine mapping, and to identify Graves' disease-specific T cell and B cell receptors. Furthermore, using the immune repertoire approach, investigators want to study the critical epitopes of thyroid auto-antigens, and to delineate the pathophysiological steps in various disease stages and in various sub-groups. Investigators expect to solve the immune repertoire of Graves' disease of different sub-group presentations and at various disease activity stages.

Patients with Graves disease

Patient from our hospital, National Taiwan University Hospital