Preview

Pharmacogenetics and Pharmacogenomics

Advanced search

Pharmacogenetics for glaucoma: present and future

Abstract

Today pharmacogenetics has been applied in many medical specialties. At the present time pharmacogenetic testing is not widely used in ophthalmology, although there have been many studies that relate to the treatment of common diseases such as glaucoma. The researchers set themselves the task to assess the risk of adverse side reactions, depending on the genotype of the patient. They were also interested in the efficacy of the treatment and its association with candidate genes, such as CYP2D6, an enzyme responsible for the metabolism of timolol, which is widely used in the treatment of glaucoma. A particular interest is gene polymorphisms of β1 and β2 receptors, affecting the level of reduction of intraocular pressure. It was mentioned a relatively new trend in pharmacogenetics — a pharmacogenetic aspects of the treatment of prostaglandin analogues. In the future such studies may contribute to improve the safety and efficacy of treatment.

About the Authors

D. A. Sychev
Russian Medical Academy of Postgraduate Education
Russian Federation


A. V. Rozhkov
I.M. Sechenov First Moscow State Medical University
Russian Federation


I. V. Alekseev
Russian Medical Academy of Postgraduate Education
Russian Federation


References

1. Li J, Tripathi R.C., Tripathi B.J. Drug induced ocular disorders. Drug Saf 2008; 31:127 — 41.

2. Santaella R.M., Fraunfelder F.W. Ocular adverse effects associated with systemic medications: recognition and management. Drugs 2007; 67:75 — 93.

3. Razeghinejad M.R., Myers J.S., Katz L.J. Iatrogenic glaucoma secondary to medications. Am J Med 2011; 124: 20 — 5.

4. Кукес В.Г., Сычёв Д.А. «Клиническая фармакология»; Гэотар — Медиа; 2015.

5. Wax M.B., Molinoff P.B., Distribution and properties of beta — adrenergic receptors in human iris — ciliary body. Invest Ophtalmol Vis Sci, 1987; 28(3):420 — 30.

6. Allen R.C., Hertzmark E., Walker A.M., Epstein D.L. A double — masked comparison of betaxolol vs. timolol in the treatment of open — angle glaucoma. Am J Ophthalmol 1986; 101:535 — 41.

7. Nicole L.P., Emmae N.R., Lisa M.K., Tuan A.N., Elizabeth E.R. Association between ophthalmic timolol and hospitalization for bradycardia. Journal of Ophthalmology. 2015

8. Affrime M.B., Lowenthal D.T.,Tolbert J.A. et al., Dynamics and kinetics of ophthalmic timolol, Clinical Pharmacology and Therapeutics, vol. 27, no. 4, pp. 471 —477, 1980.

9. Alvan G., Calissendorf B., Seideman P., Wildmark K., and Wildmark G., Absorbtion of ocular timolol, Clinical Pharmocokinetics, vol.5, no.1, pp. 95 — 100,1980.

10. Yang, Y., Wu, K., Yuan, H., and Yu, M. Cytochrome oxidase 2D6 gene polymorphism in primary open — angle glaucoma with various effects to ophthalmic timolol. J.Ocul.Pharmacol.Ther. 25:163 — 171, 2009.

11. Juha — MattiKorte, Timo K. et al. Systemic bioavailability and cardiopulmonary effects of 0.5% timololeyedrops. Graefe s Arch ClinExpOphthalmol 240: 430 — 435. 2002.

12. Marjo V, Miia T, Ari T, Jouko U et al.Timolol metabolism in human liver microsomes is mediated principally by CYP2D6. Drug metabolism and disposition. 35:1135 — 1141. 2007.

13. Yuan H., Yu M., Yang Y., Wu K., Lin X., Li J. Association of CYP2D6 Single — Nucleotide Polymorphism with Response to Ophthalmic Timolol in Primary Open — Angle Glaucoma — a pilot study. J.Ocul.Pharmacol.Ther. 26. 2010.

14. Nieminem T., Uusitalo H., Maenpaa J., Turjanmaa V., Rane A., Lundrgen S.R. et al. Polymorphisms of genes CYP2D6, ADRB1, and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol. A pilot study. Eur J Pharmacol 2005; 61:811 — 9.

15. Maqbool A., Hall A.S., Ball S.G., Balmforth A.J. Common polymorphisms of β1adrenoreceptor identification and rapid screening assays. Lancet 1999; 353: 897.

16. Levin M.C., Marullo S., Muntaner O., Andersson B., Magnusson Y. The myocardium — protective Gly49 variant of the beta 1 — adrenergic receptor exhibits constitutive activity and increased desentization and down — regulation. J BiolChem 2002; 277:30429 — 35.

17. Moore J.D., Mason D.A., Green S.A., Hsu J., Liggett S.B. Racial differences in the frequencies of cardiac beta 1 — adrenergic receptor polymorphisms: analysis of c145A>G and c1165G>C. Hum Mutat 1999; 14:271.

18. Inagaki Y., Mashima Y., Fuse N., Funayama T., Ohtake Y., Yasuda N. et al. Polymorphism of beta — adrenergic receptors and susceptibility to open — angle glaucoma. Mol Vis 2006; 12:673 — 80.

19. Schwartz S.G., Puckett B.J., Allen R.C., et al. Beta — 1 adrenergic receptor polymorphisms and clinical efficacy of betaxolol hydrochloride in normal volunteers, Ophthalmology, 2005; 112: 2131 — 6.

20. Liggett S.B. Pharmacogenomics of beta — 1 and beta — 2 adrenergic receptors. Pharmacology 2000; 61:167 — 73.

21. Parola A.L., Kobilka B.K. The peptide product of a 5’ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J BiolChem 1994; 269:4497-505.

22. Green S.A., Cole G., Jacinto M., Innis M., Liggett S.B. A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem1993; 268:23116-21.

23. McCarty C.A, Burmester J.K., Mukesh B.N., Patchett R.B., Wilke R.A. Intraocular pressure response to topical beta-blockers associated with an ADRB2 single nucleotide polymorphism. Arch Ophthalmol 2008; 126: 959 — 63.

24. Fuchsjager-Maryl G., Markovic O., Losert D., Lucas T., Wachek V., Muller M., Schmetterer L. Polymorphism of the beta-2 adrenoreceptor and IOP lowering potency of topical timolol in healthy subjects. Mol Vis 2005; 23:811-5.

25. McLaren N., Reed D.M., Musch D.C., Downs C.A., Higashi M.E., Santiago C. et al. Evaluation of the beta-2 adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations. Arch Ophthalmol 2007;125:105-11.

26. Yoko I., Yukihiko M. et al. Polymorphisms of β-adrenergic receptors and susceptibility to open — angle glaucoma. Molecular Vision. 12: 673 — 80. 2006.

27. Scherer W.J. A retrospective review of non — responders to latanoprost. J OculPharmacolTher 2002; 18:287 — 91.

28. Camras C.B., Hedman K., US Latanoprost Study Group. Rate of response to latanoprost or timolol in patients with ocular hypertension or glaucoma. J Glaucoma 2003;12:466 — 9.

29. Мошетова Л.К., Нестеров А.П., Егоров Е.А. Клинические рекомендации «Офтальмология». 2009

30. Sakurai M., Higashide T., Takahashi M., Sugiyama K. Association between genetic polymorphisms of the prostaglandin F2a receptor gene and response to latanoprost. Ophthalmology 2007; 114:1039-45.

31. Sakurai M., Higashide T., Takahashi M., et al. Association between genetic polymorphisms of the prostaglandin F2alpha receptor gene and response to latanoprost in patients with glaucoma and ocular hypertension. Br J Ophthalmol 2014; 98:469 — 473.


Review

For citations:


Sychev D.A., Rozhkov A.V., Alekseev I.V. Pharmacogenetics for glaucoma: present and future. Pharmacogenetics and Pharmacogenomics. 2016;(1):13-17. (In Russ.)

Views: 487


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2588-0527 (Print)
ISSN 2686-8849 (Online)