Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population
Abstract Background 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...
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doaj-d7c669b14fe44e548d41c67fe3569bb12021-04-02T11:53:51ZengBMCBMC Medical Genomics1755-87942019-07-011211910.1186/s12920-019-0556-xCopy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian populationBrian Ramírez0María José Niño-Orrego1Daniel Cárdenas2Kevin Enrique Ariza3Karol Quintero4Nora Constanza Contreras Bravo5Caroll Tamayo-Agudelo6María Alejandra González7Paul Laissue8Dora Janeth Fonseca Mendoza9GENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioGENIUROS Research Group, Center For Research in Genetics and Genomics – CIGGUR, School of Medicine and Health Sciences, Universidad Del RosarioAbstract Background 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.http://link.springer.com/article/10.1186/s12920-019-0556-xDNA copy number variationAllele frequencyPersonalized medicinePharmacogenomics,DNA |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Brian Ramírez María José Niño-Orrego Daniel Cárdenas Kevin Enrique Ariza Karol Quintero Nora Constanza Contreras Bravo Caroll Tamayo-Agudelo María Alejandra González Paul Laissue Dora Janeth Fonseca Mendoza |
spellingShingle |
Brian Ramírez María José Niño-Orrego Daniel Cárdenas Kevin Enrique Ariza Karol Quintero Nora Constanza Contreras Bravo Caroll Tamayo-Agudelo María Alejandra González Paul Laissue Dora Janeth Fonseca Mendoza Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population BMC Medical Genomics DNA copy number variation Allele frequency Personalized medicine Pharmacogenomics,DNA |
author_facet |
Brian Ramírez María José Niño-Orrego Daniel Cárdenas Kevin Enrique Ariza Karol Quintero Nora Constanza Contreras Bravo Caroll Tamayo-Agudelo María Alejandra González Paul Laissue Dora Janeth Fonseca Mendoza |
author_sort |
Brian Ramírez |
title |
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population |
title_short |
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population |
title_full |
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population |
title_fullStr |
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population |
title_full_unstemmed |
Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population |
title_sort |
copy number variation profiling in pharmacogenetics cyp-450 and gst genes in colombian population |
publisher |
BMC |
series |
BMC Medical Genomics |
issn |
1755-8794 |
publishDate |
2019-07-01 |
description |
Abstract Background 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. |
topic |
DNA copy number variation Allele frequency Personalized medicine Pharmacogenomics,DNA |
url |
http://link.springer.com/article/10.1186/s12920-019-0556-x |
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