Genetic predictors of the development and recurrence of Graves' disease

Physiol Res. 2018 Nov 28;67(Suppl 3):S431-S439. doi: 10.33549/physiolres.934018.

Abstract

Graves' disease affects approximately 3 % of women and 0.5 % of men. The first-choice therapy is based on the administration of thyrostatic drugs. However, approximately half of patients relapse within two years of discontinuation. These patients must then decide whether to re-initiate thyrostatics, which may have serious side effects, or to undergo surgery or radioiodine treatment. Familial forms of Graves' disease indicate a significant genetic component, with twin studies demonstrating a contribution of genetic factors up to 70-80 %. The autoimmune nature of the disease involves the human leukocyte antigen (HLA) complex, which has a decisive impact on each individual's immune response. Within HLA, some variants of the DRB1, DQA1 and DQB1 genes appear to be possible predictors of the development and recurrence of Graves' disease. Outside the HLA region, many variants of immunocompetent genes have also been identified as potential Graves' disease predictors. Apart from the immune system, some thyroid-specific genes have been described in relation to the disease. Here, we present current knowledge regarding the genetic components involved in the development and recurrence of Graves' disease. Further, we present original pilot results from a cohort of Czech Graves' disease patients regarding the HLA variants.

Publication types

  • Review

MeSH terms

  • Cohort Studies
  • Czech Republic / epidemiology
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Graves Disease / diagnosis*
  • Graves Disease / epidemiology
  • Graves Disease / genetics*
  • HLA Antigens / genetics*
  • Humans
  • Pilot Projects
  • Predictive Value of Tests
  • Recurrence
  • Thyroid Gland / pathology
  • Thyroid Gland / physiology

Substances

  • HLA Antigens