CYP450 y farmacogenética en Guatemala. Revisión narrativa

Rodrigo J. Vargas; Oscar Cobar

doi:10.36829/63CTS.v8i2.947

Autores/as

Rodrigo J. Vargas Doctorado en Ciencias Biomédicas, Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos,Escuela de Estudios de Postgrado, Facultad de Ciencias Médicas, Universidad de San Carlos de Guatemala
Oscar Cobar Red Latinoamericana de Implementación y Validación de pautas de farmacogenómica clínica (Relivaf-Cyted) y Universidad Galileo y Universidad del Istmo,Red Latinoamericana de Implementación y Validación de pautas de farmacogenómica clínica (Relivaf-Cyted) y Universidad Galileo y Universidad del Istmo

DOI:

https://doi.org/10.36829/63CTS.v8i2.947

Resumen

El proyecto HapMap ha generado información y preguntas sobre la diversidad genética en las distintas pobla-ciones del mundo. En las últimas décadas, proyectos como la elucidación del genoma del mestizo mexicano han revelado las distancias genéticas entre mestizos y amerindios en México. Cerca de 20 genes son actualmente estudiados en paneles comerciales asociados al metabolismo de fármacos, uno de ellos el gen que expresa la enzi-ma CY P2C19, la cual metaboliza cerca de 26 fármacos de importancia clínica. El objetivo fue revisar la literatura científica en Google Scholar, PubMed y ScienceDirect que reporta resultados sobre estudios farmacogenéticos en Guatemala, otros que presentan hallazgos sobre distancias genéticas en el guatemalteco y se compara con lo que se conoce de otras poblaciones del continente y el mundo, haciendo énfasis en CY P2C19. El mestizaje en Guatemala fue único, por ello es importante investigar sus variantes alélicas asociadas al metabolismo de fármacos, para permitir una terapéutica más efectiva y segura que mejore la calidad de vida del guatemalteco.

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Citas

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 DOI: 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 DOI: https://doi.org/10.1007/s00228-004-0890-5

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 DOI: 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 DOI: 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 DOI: https://doi.org/10.2146/ajhp100113

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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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. DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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. DOI: https://doi.org/10.1097/01213011-199910000-00005

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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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. DOI: https://doi.org/10.1016/j.medcli.2017.02.035

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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: 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 DOI: https://doi.org/10.1111/cts.12758