Pharmacogenetic testing of the gluccorticoid receptor and cytochrome P450 gene in patients with endocrine ophthalmopathy

• Olga S. Toropova
• Alevtina F. Brovkina
• Dmitry A. Sychev

Abstract

For more than 50 years, glucocorticoid therapy has been practically the only method for treating patients with endocrine ophthalmopathy. There are steroid-resistant forms of this disease, the frequency of which ranges from 4-5%. There is evidence that one of the reasons for the ineffective treatment of glucocorticoid therapy autoimmune disease may be the presence of polymorphisms of the glucocorticoid receptor genes NR3C1 and enzymes involved in glucocorticoid metabolism. Endocrine ophthalmopathy is no exception. At the beginning of 2020, there are only two publications on this subject in the literature.

Keywords:endocrine ophthalmopathy, glucocorticoid therapy, glucocorticoid receptor gene polymorphism, cytochrome P450 system, resistance

References

1. Brovkina A.F. Endocrine ophthalmopathy. Moscow: GEOTAR-MED, 2004: 176 p. (in Russian)

2. Robert H.O., John A.C. The biology of the glucocorticoid receptor: new signaling mechanisms in health and disease. J Allergy Clin Immunol. 2013; 132 (5): 1033-44. DOI: 10.1016/j.jaci.2013.09.007

3. Sychev D.A., Ashraf G.M., Svistunov A.A. The cytochrome P450 isoenzyme and some new opportunities for the prediction of negative drug interaction in vivo. Drug Des Devel Ther. 2018; 12: 1147-56. DOI: 10.2147/DDDT.S 149069

4. Vannucchi G., Covelli D., Campi I., Origo D., Curro N., Cirello V., et al. The therapeutic outcomes of intravenous steroids therapy for active Graves orbitopathy is influenced by the time of response but not polymorph of the glucocorticoid receptor. Eur J Endocrinol. 2013; 170 (1): 55-61. DOI: 10.1530/EJE-13-0611

5. Sahakian S.V., Panteleeva O.G., Batyrbekova F. Kh., Sirmays O.S., Martirosyan N.S., Petunina N.A., et al. Genetic factors of development of resistance to glucocorticoids in patients with endocrine ophthalmopathy. Effektivnaya farmakoterapiya [Effective Pharmacotherapy]. 2019; 15 (33): 18-23. DOI: 10.33978/2307-3586-2019-15-33-18-23 (in Russian)

All articles in our journal are distributed under the Creative Commons Attribution 4.0 International License (CC BY 4.0 license)