CYP450 and pharmacogenetics in Guatemala. Narrative review
DOI:
https://doi.org/10.36829/63CTS.v8i2.947Abstract
The HapMap project has generated information and queries about genetic diversity in the different populations around the world. In recent decades, research projects such as the elucidation of the genome of the Mexican Mestizo, have exposed the genetic distances between mestizos and Amerindians in Mexico. About 20 genes are currently studied in commercial panels associated with drug metabolism. One of them CY P2C19, that expresses the CY P2C19 enzyme, that metabolizes about 26 drugs of clinical importance. The objective was to review the scientific literature in Google Scholar, PubMed and ScienceDirect that reports results on pharmacogenetic studies in Guatemala, others that presented findings over genetic distances in Guatemala, as well as a comparison with the knowledge about other populations of the continent and world, with emphasis in CY P2C19 gen. Miscegenation in Guatemala was unique and is important to investigate the Guatemalan allelic variants associated with drug metabolism to allow a more effective and safe therapeutic and improve their quality of life.
Downloads
References
Al Omari, A., & Murry, D. J. (2007). Pharmacogenetics of the cytochrome P450 enzyme system: review of current knowledge and clinical significance. Journal of Pharmacy Practice, 20(3), 206-218. https://doi.org/10.1177/0897190007304821
Bravo-Villalta, H. V., Yamamoto, K., Nakamura, K., Bayá, A., Okada, Y., & Horiuchi, R. (2005). Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: An investigative and comparative study. European Journal of Clinical Pharmacology, 61(3), 179-184. https://doi.org/10.1007/s00228-004-089-5
Céspedes-Garro, C., Naranjo, M., Ramírez, R., Serrano, V., Fariñas, H., Barrantes, R., & Llerena, A. L. (2015). Pharmacogenetics in Central American healthy volunteers: Interethnic variability. Drug Metabolism and Personalized Therapy, 30(1), 19-31. https://doi.org/10.1515/dmdi-2014-0025
Céspedes-Garro, C., Rodrigues-Soares, F., Jiménez-Arce, G., Naranjo, M. E. G., Tarazona-Santos, E., Fariñas, H., Barrantes, R., & Llerena, A. (2016). Relevance of the ancestry for the variability of the Drug-Metabolizing Enzymes CYP2C9, CYP2C19 and CYP2D6 polymorphisms in a multiethnic Costa Rican population. Revista de Biología Tropical, 64(3), 1067-1076. https://doi.org/10.15517/rbt.v64i3.20901
Crews, K. R. (2011). Development and implementation of a pharmacist-managed. American Journal of Health-System Pharmacy, 68(2), 143-150. https://doi.org/10.2146/ajhp100113.Development
Deguchi, S., Yamashita, T., Igai, K., Harada, K., Toba, Y., Hirata, K., Takayama, K., & Mizuguchi, H. (2019). Modeling of hepatic drug metabolism and responses in CYP2C19 poor metabolizer using genetically manipulated human iPS cells. Drug Metabolism and Disposition, 47(6), 632-638. https://doi.org/10.1124/dmd.119.086322
Duong, B. Q., Arwood, M. J., Hicks, J. K., Beitelshees, A. L., Franchi, F., Houder, J. T., Limdi, N. A., Cook, K. J., Owusu Obeng, A., Petry, N., Tuteja, S., Elsey, A. R., Cavallari, L. H., & Wiisanen, K. (2020). Development of customizable implementation guides to support clinical Aaoption of pharmacogenomics: Experiences of the implementing GeNomics in pracTicE (IGNITE) Network. Pharmacogenomics and Personalized Medicine, (13), 217-226. https://doi.org/10.2147/PGPM.S241599
Favela-Mendoza, A. F., Martinez-Cortes, G., Hernandez-Zaragoza, M., Salazar-Flores, J., Muñoz-Valle, J. F., Martinez-Sevilla, V. M., Velásquez-Suárez, N. Y., & Rangel-Villalobos, H. (2015). Genetic variability of CYP2C19 in a Mexican population: Contribution to the knowledge of the inheritance pattern of CYP2C19* 17 to develop the ultrarapid metabolizer phenotype. Journal of Genetics, 94(1), 3-7. https://doi.org/10.1007/s12041-015-0477-1
Flores-Gutiérrez, S., Rodríguez-Larralde, Á., Vivenes de Lugo, M., & Castro de Guerra, D. (2017). Distribution of polymorphisms in the CYP2C9 gene and CYP2C19/CYP2C9 haplotypes among Venezuelan populations. Annals of Human Biology, 44(2), 191-198. https://doi.org/10.1080/03014460.2016.1192218
Gaedigk, A., Ingelman-Sundberg, M., Miller, N. A., Leeder, J. S., Whirl-Carrillo, M., & Klein, T. E. (2018). The pharmacogene variation (PharmVar) consortium: Incorporation of the human Cytochrome P450 (CYP) Allele Nomenclature Database. Clinical Pharmacology & Therapeutics, 103(3), 399-401. https://doi.org/10.1002/cpt.910
Garrido, C., Santizo, V. G., Müllers, P., Soriano, D. R., Avila, G. B., Dean, M., & Jimenez-Morales, S. (2013). Frequency of thiopurine S-methyltransferase mutant alleles in indigenous and admixed Guatemalan patients with acute lymphoblastic leukemia. Medical Oncology, 30(7), 474. https://doi.org/10.1007/s12032-013-0474-2
Gialeraki, A., Markatos, C., Grouzi, E., Merkouri, E., Travlou, A., & Politou, M. (2010). Evaluation of a reverse-hybridization StripAssay for the detection of genetic polymorphisms leading to acenocoumarol sensitivity. Molecular Biology Reports, 37(4), 1693-1697. https://doi.org/10.1007/s11033-009-9587-2
Gonzalez, H. M., Romero, E. M., Peregrina, A. A., Chávez, T. D. J., Escobar‐Islas, E., Felipe, L. K., & Hoyo‐Vadillo, C. (2003). CYP2C19‐and CYP3A4‐dependent omeprazole metabolism in West Mexicans. Journal of Clinical Pharmacology, 43(11), 1211-1215. https://doi.org/10.1177/0091270003258170
Gonzalez-Covarrubias, V., Martínez-Magaña, J. J., Coronado-Sosa, R., Villegas-Torres, B., Genis-Mendoza, A. D., Canales-Herrerias, P., Nicolini, H., & Soberón, X. (2016). Exploring variation in known pharmacogenetic variants and its Association with Drug Response in Different Mexican Populations. Pharmaceutical Research, 33(11), 2644-2652. https://doi.org/10.1007/s11095-016-1990-5.
Gonzalez-Covarrubias, V., Morales-Franco, M., Cruz-Correa, O. F., Martínez-Hernández, A., García-Ortíz, H., Barajas-Olmos, F., Genis-Mendoza, A. D., Martínez-Magaña, J. J., Nicolini, H., Orozco, L., & Soberón, X. (2019). Variation in actionable pharmacogenetic markers in natives and mestizos from Mexico. Frontiers in Pharmacology, 10, Article 1169. https://doi.org/10.3389/fphar.2019.01169
Haga, S. B., & Kantor, A. (2018). Horizon scan of clinical laboratories offering pharmacogenetic testing. Health Affairs, 37(5), 717-723. https://doi.org/10.1377/hlthaff.2017.1564
Hewett, M., Oliver, D. E., Rubin, D. L., Easton, K. L., Stuart, J. M., Altman, R. B., & Klein, T. E. (2002). PharmGKB: The pharmacogenetics knowledge base. Nucleic Acids Research, 30(1), 163-165. https://doi.org/10.1093/nar/30.1.163
Ibeanu, G. C., Goldstein, J. A., Meyer, U. R. S., Benhamou, S., Bouchardy, C., Dayer, P., Blaisdell, J., & Blaisdell, J. (1998). Identification of new human CYP2C19 alleles (CYP2C19* 6 and CYP2C19* 2B) in a Caucasian poor metabolizer of mephenytoin. Journal of Pharmacology and Experimental Therapeutics, 286(3), 1490-1495.
Ingelman-Sundberg, M., Sim, S. C, Gómez, A., & Rodriguez-Antona, C. (2007). Influencia de los polimorfismos del citocromo P450 en las terapias farmacológicas: aspectos farmacogenéticos, farmacoepigenéticos y clínicos. Farmacología y Terapéutica, 116(3), 496-526. https://doi.org/10.1016/j.pharmthera.2007.09.004
Isaza, C., Henao, J., Isaza, J. H., Sepúlveda, J. C., & Beltrán, L. (2006). Caracterización genotípica y fenotípica CYP2C19 de población mestiza colombiana. Revista Médica de Risaralda, 12(2), 5-13. http://dx.doi.org/10.22517/25395203.979
Kaneko, A., Lum, J. K., Yaviong, L., Takahashi, N., Ishizaki, T., Bertilsson, L., Kobayakawa, T., & Björkman, A. (1999). High and variable frequencies of CYP2C19 mutations: Medical consequences of poor drug metabolism in Vanuatu and other Pacific islands. Pharmacogenetics, 9(5), 581-590.
Küpfer, A., & Preisig, R. (1984). Pharmacogenetics of mephenytoin: A new drug hydroxylation polymorphism in man. European Journal of Clinical Pharmacology, 26(6), 753-759. https://doi.org/10.1007/BF00541938
Leitão, L. P., Souza, T. P., Rodrigues, J. C., Fernandes, M. R., Santos, S., & Santos, N. P. (2020). The metabolization profile of the CYP2D6 gene in Amerindian populations: A review. Genes, 11(3), 262. https://doi.org/10.3390/genes11030262
León-Moreno, L. C., Saldaña-Cruz, A. M., Sánchez-Corona, J., Mendoza-Carrera, F., García-Zapién, A. G., Revilla-Monsalve, C., Islas-Andrade, S., Brito-Zurita, O., Pérez-Vargas, A., & Flores-Martínez, S. E. (2019). Distribution of potential risk alleles and haplotypes of the CYP2C9 and CYP2C19 genes in Mexican native populations: A comparative study among Amerindian populations. Meta Gene, 20, Article 100565. https://doi.org/10.1016/j.mgene.2019.100565
Levano, S., Ginz, H., Siegemund, M., Filipovic, M., Voronkov, E., Urwyler, A., & Girard, T. (2005). Genotyping the butyrylcholinesterase in patients with prolonged neuromuscular block after succinylcholine. Anesthesiology: The Journal of the American Society of Anesthesiologists, 102(3), 531-535. https://doi.org/10.1097/00000542-200503000-00009
López-Cortés, A., Paz-y-Miño, C., Guerrero, S., Jaramillo-Koupermann, G., Cáceres, Á. L., Intriago-Baldeón, D. P., García-Cárdenas, J. M., Guevara-Ramírez, P., Armendáriz-Castillo, I., Leone, P. E., Quiñones, L. A., Cayún, J. P., & Soria, N. W. (2019). Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer. The Pharmacogenomics Journal, 20(4). 1-23. https://doi.org/10.1038/s41397-019-0102-4
Manikandan, P., & Nagini, S. (2018). Cytochrome p450 structure, function and clinical significance. Current Drug Targets, 19(1). 38-54. https://doi.org/10.2174/1389450118666170125144557
Martinez‐Espin, E., Martínez‐Gonzalez, L. J., Fernandez‐Rosado, F., Entrala, C., Alvarez, J. C., Lorente, J. A., Budowle, B., & De Monroy, M. O. (2006). Guatemala mestizo population data on 15 STR Loci (Identifiler® Kit). Journal of Forensic Sciences, 51(5), 1216-1218. https://doi.org/10.1111/j.1556-4029.2006.00249.x
Martínez-Magaña, J. J., Genis-Mendoza, A. D., Villatoro Velázquez, J. A., Camarena, B., Martín Del Campo Sanchez, R., Fleiz Bautista, C., Bustos Gamiño, M., Reséndiz, E., Aguilar, A., Medina-Mora, M. E., & Nicolini, H. (2020). The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico. Frontiers in Pharmacology, 11, 324. https://doi.org/10.3389/fphar.2020.00324
Martínez-Quintana, E., Rodríguez-González, F., Medina-Gil, J. M., Garay-Sánchez, P., & Tugores, A. (2017). Actividad de CYP2C19 y factores de riesgo cardiovascular en pacientes con síndrome coronario agudo. Medicina Clínica, 149(6), 235-239.
Mirzaev, K. B., Zelenskaya, E. M., Barbarash, O. L., Ganyukov, V. I., Apartsin, K. A., Saraeva, N. O., Nikolaev, K. Y., Ryzhikova, K. A., Lifshits, G. I., & Sychev, D. A. (2017). CYP2C19 polymorphism frequency in Russian patients in Central Russia and Siberia with acute coronary syndrome. Pharmacogenomics and Personalized Medicine, 10, 107. https://doi.org/10.2147/PGPM.S126305
Naranjo, M. E. G., Rodrigues-Soares, F., Penas-Lledo, E. M., Tarazona-Santos, E., Farinas, H., Rodeiro, I., Terán, E., Grazina, M., Moya, G.E., López-López, M., Sarmiento, A. P., Calzadilla, L. R., Ramírez-Roa, R., Ortíz-López, R., Estévez-Carrizo, F. E., Sosa-Macías, M., Barrantes, R., Llerena, A. 2018). Interethnic variability in CYP2D6, CYP2C9, and CYP2C19 genes and predicted drug metabolism phenotypes among 6060 Ibero-and native Americans: RIBEF-CEIBA consortium report on population pharmacogenomics. Omics, 22(9), 575-588. https://doi.org/10.1089/omi.2018.0114
Relling, M. V., Schwab, M., Whirl‐Carrillo, M., Suarez‐Kurtz, G., Pui, C. H., Stein, C. M., Moyer, A. M., Evans, W.E., Klein, T.E., Antillon-Klussman, F.G., Caudle, K. E., Kato, M., Yeoh, A.E., Schmiegelow, K, Yang, J.J. (2019). Clinical pharmacogenetics implementation consortium guideline for thiopurine dosing based on TPMT and NUDT 15 genotypes: 2018 update. Clinical Pharmacology & Therapeutics, 105(5), 1095-1105. https://doi.org/10.1002/cpt.1304
Salazar-Flores, J., Torres-Reyes, L. A., Martínez-Cortés, G., Rubi-Castellanos, R., Sosa-Macías, M., Muñoz-Valle, J. F., González-González, C., Ramírez, A., Román, R., Méndez, J.L., Barrera, A., Torres, A., Medina, R., & Rangel-Villalobos, H. (2012). Distribution of CYP2D6 and CYP2C19 polymorphisms associated with poor metabolizer phenotype in five Amerindian groups and western Mestizos from Mexico. Genetic Testing and Molecular Biomarkers, 16(9), 1098-1104. https://doi.org/10.1089/gtmb.2012.0055
Schaeffeler, E., Zanger, U. M., Eichelbaum, M., Asante-Poku, S., Shin, J.-G., & Schwab, M. (2008). Highly Multiplexed Genotyping of Thiopurine S-Methyltransferase Variants Using MALDI-TOF Mass Spectrometry: Reliable Genotyping in Different Ethnic Groups. Clinical Chemistry, 54(10), 1637-1647. https://doi.org/10.1373/clinchem.2008.103457
Shah, R. R., Gaedigk, A., LLerena, A., Eichelbaum, M., Stingl, J., & Smith, R. L. (2016). CYP450 genotype and pharmacogenetic association studies: A critical appraisal. Pharmacogenomics, 17(3), 259-275. https://doi.org/10.2217/pgs.15.172
Silva-Zolezzi, I., Hidalgo-Miranda, A., Estrada-Gil, J., Fernandez-Lopez, J. C., Uribe-Figueroa, L., Contreras, A., Balam-Ortiz, E., Bosque-Plata, L. del, Velazquez-Fernandez, D., Lara, C., Goya, R., Hernandez-Lemus, E., Davila, C., Barrientos, E., March, S., & Jimenez-Sanchez, G. (2009). Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proceedings of the National Academy of Sciences, 106(21), 8611-8616. https://doi.org/10.1073/pnas.0903045106
Sosa-Macías, M., Teran, E., Waters, W., Fors, M. M., Altamirano, C., Jung-Cook, H., Galaviz-Hernández, C., López-López, M., Ramírez, D., Moya, G., Hernández, F., Fariñas, H., Ramírez, R., Céspedes-Garro, C., Tarazona-Santos, E., & Llerena, A. (2016). Pharmacogenetics and ethnicity: Relevance for clinical implementation, clinical trials, pharmacovigilance and drug regulation in Latin America. Pharmacogenomics, 17(16), 1741-1747. https://doi.org/10.2217/pgs-2016-0153
Spierings, G., & Dunbar, S. A. (2013). Pharmacogenetics Using Luminex® xMAP® Technology: A Method for Developing a Custom Multiplex Single Nucleotide Polymorphism Mutation Assay. En F. Innocenti & R. H. N. van Schaik (Eds.), Pharmacogenomics: Methods and Protocols (pp. 115-126). Humana Press. https://doi.org/10.1007/978-1-62703-435-7_7
Wedlund, P. J. (2000). The CYP2C19 enzyme polymorphism. Pharmacology, 61(3), 174-183. https://doi.org/10.1159/000028398
Whirl-Carrillo, M., McDonagh, E. M., Hebert, J. M., Gong, L., Sangkuhl, K., Thorn, C. F., Altman, R.B., & Klein, T. E. (2012). Pharmacogenomics knowledge for personalized medicine. Clinical Pharmacology and Therapeutics, 92(4), 414-417. https://doi.org/10.1038/clpt.2012.96
Xajil Ramos, L. Y., Gaitán Izaguirre, G. M. E., Luna Aguilera, M. F., Vargas Rosales, R. J., Higueros Villagrán, R. A., & Saldaña Santiago, D. G. (2020). Respuesta farmacogenética a escitalopram en pacientes geriátricos en Guatemala. Revista de la OFIL, 30(2), 121-125. https://doi.org/10.4321/s1699-714x2020000200011
Xie, H. G., Prasad, H. C., Kim, R. B., & Stein, C. M. (2002). CYP2C9 allelic variants: Ethnic distribution and functional significance. Advanced Drug Delivery Reviews, 54(10), 1257-1270. https://doi.org/10.1016/s0169-409x(02)00076-5
Zanger, U. M., & Schwab, M. (2013). Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacology & Therapeutics, 138(1), 103-141. https://doi.org/10.1016/j.pharmthera.2012.12.007
Zhang, L., Sarangi, V., Moon, I., Yu, J., Liu, D., Devarajan, S., Reid, J., Kalari, K., Wang, L., & Weinshilboum, R. (2020). CYP2C9 and CYP2C19: Deep mutational scanning and functional characterization of genomic missense variants. Clinical and Translational Science, 13(3), 1-16. https://doi.org/10.1111/cts.12758
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2021 Rodrigo J. Vargas, Oscar Cobar
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
El autor que publique en esta revista acepta las siguientes condiciones:
- El autor otorga a la Dirección General de Investigación el derecho de editar, reproducir, publicar y difundir el manuscrito en forma impresa o electrónica en la revista Ciencia, Tecnología y Salud.
- La Direción General de Investigación otorgará a la obra una licencia Creative Commons Atribución-NoComercial-CompartirIgual 4.0 Internacional