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Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population

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dc.creatorRamírez, Brianspa
dc.creatorNiño-Orrego, María Joséspa
dc.creatorCárdenas, Danielspa
dc.creatorAriza, Kevin Enriquespa
dc.creatorQuintero, Karolspa
dc.creatorContreras Bravo, Nora Constanza
dc.creatorTamayo-Agudelo, Carollspa
dc.creatorGonzález, María Alejandraspa
dc.creatorLaissue, Paulspa
dc.creatorFonseca Mendoza, Dora Janeth
dc.date.accessioned2020-05-26T00:03:14Z
dc.date.available2020-05-26T00:03:14Z
dc.date.created2019spa
dc.description.abstractBackground: Copy Number variation (CNVs) in genes related to drug absorption, distribution, metabolism and excretion (ADME) are relevant in the interindividual variability of drug response. Studies of the CNVs in ADME genes in Latin America population are lacking. The objective of the study was to identify the genetic variability of CNVs in CYP-450 and GST genes in a subgroup of individuals of Colombian origin. Methods: Genomic DNA was isolated from 123 healthy individuals from a Colombian population. Multiplex Ligation-Dependent Probe Amplification (MLPA) was performed for the identification of CNVs in 40 genomic regions of 11 CYP-450 and 3 GST genes. The genetic variability, allelic and genotypic frequencies were analyzed. Results: We found that 13 out of 14 genes had CNVs: 5 (35.7%) exhibited deletions and duplications, while 8 (57.1%) presented either deletions or duplications. 33.3% of individuals carried deletions and duplications while 49.6% had a unique type of CNV (deletion or duplication). The allelic frequencies of the CYP and GST genes were 0 to 47.6% (allele null), 0 to 17.5% (duplicated alleles) and 37 to 100% (normal alleles). Conclusions: Our results describe, for the first time, the genomic profile of CNVs in a subgroup of Colombian population in GST and CYP-450 genes. GST genes indicated greater genetic variability than CYP-450 genes. The data obtained contributes to the knowledge of genetic profiles in Latin American subgroups. Although the clinical relevance of CNVs has not been fully established, it is a valuable source of pharmacogenetic variability data with potential involvement in the response to medications. © 2019 The Author(s).eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1186/s12920-019-0556-x
dc.identifier.issn17558794
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23573
dc.language.isoengspa
dc.publisherBioMed Central Ltd.spa
dc.relation.citationIssueNo. 1
dc.relation.citationTitleBMC Medical Genomics
dc.relation.citationVolumeVol. 12
dc.relation.ispartofBMC Medical Genomics, ISSN:17558794, Vol.12, No.1 (2019)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85069429617&doi=10.1186%2fs12920-019-0556-x&partnerID=40&md5=0c1be6c3f4381324b8dc9331a004b977spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordGenomic DNAspa
dc.subject.keywordDNAeng
dc.subject.keywordGlutathione transferasespa
dc.subject.keywordAdultspa
dc.subject.keywordAllelespa
dc.subject.keywordArticlespa
dc.subject.keywordCohort analysisspa
dc.subject.keywordColombianspa
dc.subject.keywordCopy number variationspa
dc.subject.keywordCYP-450 genespa
dc.subject.keywordCYP1A1 genespa
dc.subject.keywordCYP1A2 genespa
dc.subject.keywordCYP1B1 genespa
dc.subject.keywordCYP2A6 genespa
dc.subject.keywordCYP2B6 genespa
dc.subject.keywordCYP2C19 genespa
dc.subject.keywordCYP2C9 genespa
dc.subject.keywordCYP2D genespa
dc.subject.keywordCYP2E1 genespa
dc.subject.keywordCYP3A4 genespa
dc.subject.keywordCYP3A5 genespa
dc.subject.keywordDNA isolationspa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene deletionspa
dc.subject.keywordGene duplicationspa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic profilespa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGenotypespa
dc.subject.keywordGST genespa
dc.subject.keywordGSTM1 genespa
dc.subject.keywordGSTP1 genespa
dc.subject.keywordGSTT1 genespa
dc.subject.keywordHumanspa
dc.subject.keywordMalespa
dc.subject.keywordNormal humanspa
dc.subject.keywordPersonalized medicinespa
dc.subject.keywordPharmacogeneticsspa
dc.subject.keywordPriority journalspa
dc.subject.keywordSouth and Central Americaspa
dc.subject.keywordColombiaspa
dc.subject.keywordGeneticsspa
dc.subject.keywordColombiaspa
dc.subject.keywordCytochrome P-450 Enzyme Systemspa
dc.subject.keywordDNA Copy Number Variationsspa
dc.subject.keywordGene Frequencyspa
dc.subject.keywordGenotypespa
dc.subject.keywordGlutathione Transferasespa
dc.subject.keywordHumansspa
dc.subject.keywordPharmacogeneticsspa
dc.subject.keywordAllele frequencyspa
dc.subject.keywordDNA copy number variationspa
dc.subject.keywordPersonalized medicinespa
dc.subject.keywordPharmacogenomicseng
dc.titleCopy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian populationspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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