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DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis

Olga Biakina1, Yulia Mitina2,3, Daria Gognieva1,4

  • 1Department of Cardiology, Functional and Ultrasound Diagnostics of N.V. Sklifosovsky Institute for Clinical Medicine, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119991 Moscow, Russia.

International Journal of Molecular Sciences
|February 25, 2023
PubMed

Insights

Genetic markers in the DUOX1 gene are linked to amiodarone-induced thyrotoxicosis (AIT). Carriers of the DUOX1 G/T genotype face a 3.18 times higher risk of developing AIT, suggesting personalized amiodarone treatment.

Area of Science:

  • Endocrinology
  • Genetics
  • Pharmacology

Background:

  • Amiodarone is a widely used antiarrhythmic drug.
  • Adverse thyroid events, including amiodarone-induced thyrotoxicosis (AIT) and amiodarone-induced hypothyroidism (AIH), are significant complications.
  • The genetic factors influencing the development of AIT and AIH remain largely unknown.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms and the pathogenesis of amiodarone-induced thyrotoxicosis (AIT) type 2.
  • To identify potential genetic markers that predict the risk of developing AIT in patients treated with amiodarone.

Main Methods:

  • A comparative study involving 39 patients with confirmed AIT type 2 and 39 control patients on amiodarone therapy without thyroid pathology.
  • Genotyping analysis was performed for polymorphisms in genes including the (Na)-iodide symporter (NIS), thyroid stimulating hormone receptor (TSHR), thyroid peroxidase (TPO), DUOX1, and glutathione peroxidases (GPX3, GPX4).
  • Statistical analysis was conducted to determine genotype distributions and their association with AIT risk.

Main Results:

  • The study identified a significant association between the DUOX1 gene polymorphism (G/T substitution) and an increased risk of AIT type 2.
  • Carriers of the DUOX1 G/T genotype exhibited a 3.18-fold higher risk of developing AIT.
  • No significant associations were found for polymorphisms in NIS, TSHR, TPO, GPX3, or GPX4 genes with AIT risk in this cohort.

Conclusions:

  • The DUOX1 gene G/T polymorphism is a potential genetic marker associated with an increased risk of amiodarone-induced thyrotoxicosis type 2.
  • These findings highlight the need for a personalized approach to amiodarone administration, potentially involving genetic screening.
  • Further research is warranted to elucidate the precise mechanisms linking DUOX1 gene variants to amiodarone's thyroid-related adverse effects.
Keywords:
DUOX1 geneamiodarone-induced thyrotoxicosis 2 typegenetic markers

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