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Polymorphisms of the glucocorticoid receptor gene in Graves ophthalmopathy

¹ Second Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
² Department of Ophthalmology, National Institute of Neurosurgery, Budapest, Hungary
³ Molecular Medicine Research Group, Hungarian Academy of Sciences, Budapest, Hungary
⁴ Gedeon Richter Ltd, Budapest, Hungary
⁵ Endocrine Centre of Polyclinic of the Hospitaller Brothers of St. John of God, Budapest, Hungary

Correspondence to:
B Boyle, 2nd Department of Medicine, Semmelweis University, Szentkirályi st. 46. H-1088 Budapest, Hungary; belema.boyle{at}gmail.com

Background/aims: Glucocorticoids have an important role in the regulation of the immune system, and alterations in glucocorticoid signaling may have an impact on the pathophysiology of autoimmune and inflammatory disorders. Because polymorphisms of the glucocorticoid receptor (GR) gene, including the N363S, ER22/23EK, A3669G and BclI variants were found to influence glucocorticoid signalling, we examined whether these polymorphisms could be associated with the development or clinical manifestations of Graves ophthalmopathy (GO).

Methods: The carrier and allelic frequencies of the N363S, ER22/23EK, A3669G, and BclI polymorphisms of the GR were determined in 95 Hungarian outpatients with GO and 160 healthy controls.

Results: No significant changes were found in carrier frequencies of the four polymorphisms between GO patients and healthy controls. However, when GO patients were divided into two subgroups (American Thyroid Association Committee, ATA I–II vs ATA III or greater), the frequency of the polymorphic BclI allele was significantly higher in patients with ATA I–II compared with those with ATA III or more (p = 0.009).

Conclusion: The significant association between the frequency of the polymorphic BclI allele and ATA stage distribution suggests that this polymorphism of the GR gene may affect clinical manifestations of GO, presumably due to an increased signaling of endogenous glucocorticoids.