Relevance of NR1I2 variants on carbamazepine therapy in Mexican Mestizos with epilepsy at a tertiary-care hospital-Reference-Cited by-同舟云学术

Relevance of NR1I2 variants on carbamazepine therapy in Mexican Mestizos with epilepsy at a tertiary-care hospital

Published:2021-10 Issue:15 Volume:22 Page:983-996
ISSN:1462-2416
Container-title:Pharmacogenomics
language:en
Short-container-title:Pharmacogenomics

Author:

Fricke-Galindo Ingrid¹^ORCID,Jung-Cook Helgi²³^ORCID,Martínez-Juárez Iris E²^ORCID,Monroy-Jaramillo Nancy²^ORCID,Ortega-Vázquez Alberto¹^ORCID,Rojas-Tomé Irma S²,Dorado Pedro⁴⁵^ORCID,Peñas-Lledó Eva⁴⁶^ORCID,Llerena Adrián⁴⁶⁷^ORCID,López-López Marisol¹^ORCID

Affiliation:

1. Metropolitan Autonomous University, Campus Xochimilco, Calzada del Hueso 1100, Villa Quietud, 04960, Coyoacán, Mexico City, Mexico

2. National Institute of Neurology & Neurosurgery, Manuel Velasco Suárez, Insurgentes Sur 3877, La Fama, 14269, Tlalpan, Mexico City, Mexico

3. National Autonomous University of Mexico, Mexico City, Mexico, Av. Universidad 3000, C.U., 04510, Coyoacán, Mexico City, Mexico

4. Biosanitary Research Institute, INUBE Extremadura University, Avda. de Elvas, Badajoz, 06006, Spain

5. Department of Medical-Surgery Therapeutics, University of Extremadura, Avda. Virgen del Puerto, Plasencia, 10600, Spain

6. Faculty of Medicine, University of Extremadura, Av. de Elvas, s/n, Badajoz, 06006, Spain

7. CICAB Clinical Research Center, Extremadura University Hospital, Campus Universitario, Av. de Elvas, s/n, Badajoz, 06080, Spain

Abstract

Aim: We evaluated the potential influence of genetic ( CYP3A5, EPHX1, NR1I2, HNF4A, ABCC2, RALBP1, SCN1A, SCN2A and GABRA1) and nongenetic factors on carbamazepine (CBZ) response, adverse drug reactions and CBZ plasma concentrations in 126 Mexican Mestizos (MM) with epilepsy. Subjects & methods: Patients were genotyped for 27 variants using TaqMan® assays. Results: CBZ response was associated with NR1I2 variants and lamotrigine cotreatment. CBZ-induced adverse drug reactions were related to antiepileptic polytherapy and SCN1A rs2298771/rs3812718 haplotype. CBZ plasma concentrations were influenced by NR1I2-rs2276707 and -rs3814058, and by phenytoin cotreatment. CBZ daily dose was also influenced by NR1I2-rs3814055 and EPHX1-rs1051740. Conclusion: Interindividual variability in CBZ treatment was partly explained by NR1I2, EPHX1 and SCN1A variants, as well as antiepileptic cotreatment in MM with epilepsy.

Funder

Consejo Nacional de Ciencia y Tecnología

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

Link

https://www.futuremedicine.com/doi/pdf/10.2217/pgs-2021-0081

Reference51 articles.

1. WHO. Model list of essential medicines (2019). https://apps.who.int/iris/bitstream/handle/10665/325771/WHO-MVP-EMP-IAU-2019.06-eng.pdf?ua=1

2. Carbamazepine-related antiepileptic drugs for the treatment of epilepsy - a comparative review

3. Clinical Pharmacokinetics and Pharmacological Effects of Carbamazepine and Carbamazepine-10,11-Epoxide

4. Book Reviews for Vol. 70, Issue 6 MICHAEL E. BURTON , LESLIE M. SHAW , JEROME J. SCHENTAG and WILLIAM E. EVANS .Applied Pharmacokinetics & Pharmacodynamics Principles of Therapeutic Drug Monitoring.Lippincott Williams & Wilkins; 2006. 867 pp, $ (hardcover), ISBN0-7817-4431-8. JOYCE A. GENERALI AND CHRISTINE A. BERGER .Quick Review Pharmacy. New York: McGraw Hill; 2006. 378 pp, $34.95 (paperback w/CD-ROM), ISBN 0-07-144674-5 THOMAS P. REINDERS .The Pharmacy Professional's Guide to Resumes, CVs, & Interviewing, 2ndedition. Washington, DC:American Pharmacist Association; 2006. 164 pp, $25 (softcover w/CD-ROM). ISBN 1-58212-076-5. JAMES E. TISDALE AND DOUGLAS A. MILLER , EDITORS.Drug-Induced Diseases: Prevention, Detection, and Management. Bethesda: American Society of Health-System Pharmacists; 2005. 870pp; $106.00 (hardcover) ISBN 1-58528-086-0.