Graves’ Disease is an autoimmune disease of the thyroid gland. It is characterized by hyperthyroidism associated with goiter, heart palpitations, bulging eyes, sweating, heat intolerance, tremor, anxiety and weight loss. The immunological response in Graves’ Disease comprises diffuse lymphocyte infiltration into the thyroid gland with thyroid stimulating immunoglobulin (TSI) autoantibody production. The hyperthyroidism is caused by activation of the thyroid stimulating hormone receptor (TSHR) by binding of autoantibodies.

Clinical Utility

The most strongly associated gene implicated in Graves’ disease is HLA-DRB1*03:01. Diagnosis is based on thyroid function tests as well as biochemical and clinical manifestations of hyperthyroidism rather than on genetic testing. Genetic testing does however contribute to a better understanding of the origin of the disease for improved diagnosis and treatment.

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