General aspects of pharmacigenetics and their importance in the clinical practice


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

The review of pharmacogenetics aspects influencin the efficacy and safety of medicamentary products is introduced. Different aspects of genetic polymorphism of the enzyme genes taking part in metabolism of medicaments, genes of medicine-carrier proteins, and also of genes of pharmacological targets of medicamentary action are considered.

Full Text

Restricted Access

About the authors

Marina V. Leonova

N.I. Pirogov RNRMU

Email: anti23@mail.ru
MD, professor, chief of department of clinical pharmacology

References

  1. Кукес В.Г., Палеев Н., Сычев Д. Методология персонализированной медицины: старые идеи и новые возможности. Врач. 2008;1:4-9. [Kukes V.G., Paleev N., Sychyov D. Methodology of personalized medicine: old ideas and new possibilities. Doctor. 2008;1:4-9.]
  2. Lu Y-F., Goldstein D.B., Misha A., Cavalleri G. Personalized medicine and human genetic diversity. Cold Spring Harb. Perspect. Med. 2014;4(9):a008581.
  3. Daly A.K., King B.P. Pharmacogenetics of oral anticoagulants. Pharmacogenetics. 2003;13(5):247-52.
  4. Sanderson S., Emery J., Higgins J. CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis. Genet. Med. 2005;7(2):97-104.
  5. Kawai V.K., Cunningham A., Vear S.I., Van Driest S.L., Oginni A., Xu H., Jiang M., Li C., Denny J.C., Shaffer C., Bowton E., Gage B.F., Ray W.A., Roden D.M., Stein C.M. Genotype and risk of major bleeding during warfarin treatment. Pharmacogenomics. 2014;15(16):1973-83.
  6. Martinez C., Blanco G., Ladero J.M., Garcia-Martin E., Taxonera C., Gamito F.G., Diaz-Rubio M., Agundez J.A.G. Genetic predisposition to acute gastrointestinal bleeding after NSAIDs use. Br. J. Pharmacol. 2004;141:205-8.
  7. Pilotto A., Seripa D., Franceschi M., Scarcelli C., Colaizzo D., Grandone E., Niro V., Andriulli A., Leandro G., Di Mario F., Dallapiccola B. Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology. 2007;133(2):465-71.
  8. Blanco G., Martinez C., Ladero J.M., Garcia-Martin E., Taxonera C., Gamito F.G., Diaz-Rubio M., Agundez J.A. Interaction of CYP2C8 and CYP2C9 genotypes modifies the risk for nonsteroidal anti-inflammatory drugs-related acute gastrointestinal bleeding. Pharmacogenet. Genomics. 2008;18(1):37-43.
  9. Agundez J.A.G., Garcia-Martin E., Martinez C. Genetically based impairment in CYP2C8- and CYP2C9-dependent NSAID metabolism as a risk factor for gastrointestinal bleeding: is a combination of pharmacogenomics and metabolomics required to improve personalized medicine? Expert Opin. Drug Metab. Toxicol. 2009;5(6):607-20.
  10. Mega J.L., Simon T., Collet J., Anderson J.L., Antman E.M., Bliden K., Cannon C.P., Danchin N., Giusti B., Gurbel P., Horne B.D., Hulot J.S., Kastrati A., Montalescot G., Neumann F.J., Shen L., Sibbing D., Steg P.G., Trenk D., Wiviott S.D., Sabatine M.S. Reduced-function CYP2C19 genotype and risk of adverse clinical outcomes among patients treated with clopidogrel predominantly for PCI: a meta-analysis. JAMA. 2010;304(16):1821-30.
  11. Scott S.A., Sangkuhl K., Gardner E.E., Stein C.M., Hulot J-S., Johnson J.A., Roden D.M., Klein T.E., Shuldiner A.R. Clinical pharmacogenetics implementation consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. Nature. 2011;90(2):328-32.
  12. Zabalza M., Subirana.I, Sala J., Lluis-Ganella C., Lucas G., Tomas M., Masia R., Marrugat J., Brugada R., Elosua R. Metaanalyses of the association between cytochrome CYP2C19 loss- and gain-of-function polymorphisms and cardiovascular outcomes in patients with coronary artery disease treated with clopidogrel. Heart. 2012;98(2):100-8.
  13. Klotz U., Schwab M., Treiber G. CYP2C19 polymorphism and proton pump inhibitors. Basic Clin. Pharmacol. Toxicol. 2004;95:2-8.
  14. Zhao F., Wang J., Yang Y., Wang X., Shi R., Xu Z., Huang Z., Zhang G. Effect of CYP2C19 genetic polymorphisms on the efficacy of proton pump inhibitor-based triple therapy for Helicobacter pylori eradication: a meta-analysis. Helicobacter. 2008;13(6):532-41.
  15. Tang H.L., Li Y., Hu Y.F., Xie H.G., Zhai S.D. Effects of CYP2C19 loss-of-function variants on the eradication of H. pylori infection in patients treated with proton pump inhibitor-based triple therapy regimens: a meta-analysis of randomized clinical trials. PLoS One. 2013;8(4):e62162.
  16. Marzolini С., Paus Е., Buclin Т., Kim R.B. Polymorphisms in human MDR1 (P-glycoprotein): recent advances and clinical relevance. Clin. Pharmacol. Ther. 2004;75:13-33.
  17. Сычев Д.А., Раменская Г.В., Игнатьев И.В., Кукес В.Г. Клиническая фармакогенетика (учебное пособие). М.: ГЭОРАТ-Медиа, 2007. 248 с. [Sychyov D.A., Ramenskaya G.V., Ignatjev I.V., Kukes V.G. Clinical pharmacogenetics (teaching guide). M.: GEORAT-Media, 2007.P. 248.]
  18. SLCO1B1 variants and statin-induced myopathy - a genomewide study. The SEARCH Collaborative Group. N. Engl. J. Med. 2008;359:789-99.
  19. Ramsey L.B., Johnson S.G., Caudle K.E., Haidar C.E., Voora D., Wilke R.A., Maxwell W.D., McLeod H.L., Krauss R.M., Roden D.M., Feng Q., Cooper-DeHoff R.M., Gong L., Klein T.E., Wadelius M., Niemi M. The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1 and Simvastatin-Induced Myopathy: 2014 Update. Clin. Рharmacol. Ther. 2014;96(4):423-8.
  20. Mason D.A., Moore J.D., Green S.A., Liggett S.B. A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J. Biol. Chem. 1999;274(18):12670-4.
  21. Манешина О.А., Леонова М.В., Белоусов Ю.Б. Состояние и функционирование бета-адренорецепторов и их модификация на фоне лечения бета-блокаторами больных с артериальной гипертонией и с хронической сердечной недостаточностью. Российский кардиологический журнал. 2005;5:80-6. [Maneshina O.A., Leonova M.V., Belousov Ju.B. Condition and functioning of beta-adrenoreceptors and their modification on the phone of beta-blockers treatment of patients with arterial hypertension and chronic cardiac insufficiency. Russian cardiological journal. 2005;5:80-6.]
  22. O’Connor C.M., Fiuzat M, Carson P.E. Combinatorial pharmacogenetic interactions of bucindolol and ß1, a2C аdrenergic receptor polymorphisms. PLoS One. 2012;7(10):e44324.
  23. Hizawa N. Beta-2 adrenergic receptor genetic polymorphisms and asthma. J. Clin. Pharm. Ther. 2009;34:631-43.
  24. Finkelstein Y., Bournissen F.G., Hutson J.R., Shannon M. Polymorphism of the ADRB2 gene and response to inhaled beta-agonists in children with asthma: a meta-analysis. J. Asthma. 2009;46(9):900-5.
  25. Taylor D.R., Drazen J.M., Herbison G.P., Yandava C.N., Hancox R.J., Town G.I. Asthma exacerbations during long term beta agonist use: influence of beta(2) adrenoceptor polymorphism. Thorax. 2000;55:762-7.
  26. Palmer C.N., Lipworth B.J., Lee S., Ismail T., Macgregor D.F., Mukhopadhyay S. Arginine-16 b2 adrenoceptor genotype predisposes to exacerbations in young asthmatics taking regular salmeterol. Thorax. 2006;61:940-4.
  27. Squassina A., Manchia M., Manolopoulos V.G., Artac M., Lappa-Manakou C., Karkabouna S., Mitropoulos K., Del Zompo M., Patrinos G.P. Realities and expectations of pharmacogenomics and personalized medicine: impact of translating genetic knowledge into clinical practice. Pharmacogenomics. 2010;11(8):1149-67.

Supplementary files

Supplementary Files
Action
1. JATS XML

Copyright (c) 2017 Bionika Media

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies