Genetic predictors of the development and recurrence of Graves' disease.

摘要

Graves' disease affects approximately 3 % of women and 0.5 %of men. The first-choice therapy is based on the administration ofthyrostatic drugs. However, approximately half of patientsrelapse within two years of discontinuation. These patients mustthen decide whether to re-initiate thyrostatics, which may haveserious side effects, or to undergo surgery or radioiodinetreatment. Familial forms of Graves' disease indicate a significantgenetic component, with twin studies demonstratinga contribution of genetic factors up to 70-80 %. The autoimmunenature of the disease involves the human leukocyte antigen(HLA) complex, which has a decisive impact on each individual'simmune response. Within HLA, some variants of the DRB1 , DQA1and DQB1 genes appear to be possible predictors of thedevelopment and recurrence of Graves' disease. Outside the HLAregion, many variants of immunocompetent genes have alsobeen identified as potential Graves' disease predictors. Apartfrom the immune system, some thyroid-specific genes have beendescribed in relation to the disease. Here, we present currentknowledge regarding the genetic components involved in thedevelopment and recurrence of Graves' disease. Further, wepresent original pilot results from a cohort of Czech Graves'disease patients regarding the HLA variants.