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

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

Publication date: Jul 19, 2019

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.

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.

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).

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.

Open Access PDF

Ram’irez, B., Ni~no-Orrego, M.J., C’ardenas, D., Ariza, K.E., Quintero, K., Contreras Bravo, N.C., Tamayo-Agudelo, C., Gonz’alez, M.A., Laissue, P., and Fonseca Mendoza, D.J. Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population. 05036. 2019 BMC Med Genomics (12):1.

Concepts Keywords
ADME Branches of biology
Allele Genetics
Alleles Population genetics
Allelic Pharmacology
Allelic Frequencies Pharmacy
BMC Genomics
CYP 450 Congenital disorders
Excretion Pharmacogenomics
Genetic Genetic variation
Genetic Variability Allele frequency
Genotypic Gene duplication
GST Pharmacogenetics
Interindividual Variability
Latin
Latin America
Metabolism
Pharmacogenetics
Subgroup

Semantics

Type Source Name
gene UNIPROT CALU
gene UNIPROT GGCX
gene UNIPROT CYP4F2
gene UNIPROT VKORC1
drug DRUGBANK Warfarin
gene UNIPROT TNIP1
pathway BSID Nicotine Metabolism
disease DOID NSCLC
drug DRUGBANK Cisplatin
pathway BSID Breast cancer
disease DOID breast cancer
disease MESH breast cancer
disease DOID myeloid leukemia
disease MESH myeloid leukemia
gene UNIPROT GSTA1
gene UNIPROT ENG
drug DRUGBANK L-Tyrosine
disease DOID atherosclerosis
disease MESH atherosclerosis
disease DOID Cancer
gene UNIPROT MLXIP
gene UNIPROT MYLIP
gene UNIPROT MARCH8
disease MESH diagnosis
disease DOID genetic disease
disease MESH genetic disease
disease DOID TIA
gene UNIPROT TRIM9
pathway BSID Infectious disease
disease DOID infectious disease
disease MESH infectious disease
gene UNIPROT MBNL1
gene UNIPROT INTU
gene UNIPROT USH1G
gene UNIPROT GSS
gene UNIPROT PRNP
gene UNIPROT CHRFAM7A
gene UNIPROT DUOXA1
disease DOID carcinoma
disease MESH carcinoma
disease DOID lymphoma
disease MESH lymphoma
disease DOID schizophrenia
disease MESH schizophrenia
disease MESH Multi
gene UNIPROT OXCT2
gene UNIPROT SIM2
gene UNIPROT COL9A3
gene UNIPROT COMP
gene UNIPROT COL9A1
gene UNIPROT COL9A2
gene UNIPROT SCN8A
gene UNIPROT MAG
gene UNIPROT PCYT1A
gene UNIPROT LITAF
gene UNIPROT IMPACT
gene UNIPROT RBBP6
gene UNIPROT ZNF415
gene UNIPROT PRKRA
gene UNIPROT WLS
disease DOID AIDS
disease MESH AIDS
drug DRUGBANK Simvastatin
drug DRUGBANK Fluoxetine
drug DRUGBANK Tramadol
drug DRUGBANK Amitriptyline
drug DRUGBANK Amiodarone
gene UNIPROT AMACR
disease MESH drug interactions
gene UNIPROT BMP4
gene UNIPROT TBPL1
gene UNIPROT JTB
gene UNIPROT NR1I2
gene UNIPROT CDT1
gene UNIPROT MSH3
drug DRUGBANK Flunarizine
drug DRUGBANK Phenacetin
drug DRUGBANK Caffeine
drug DRUGBANK Nicotine
gene UNIPROT SMIM10L2A
gene UNIPROT SMIM10L2B
gene UNIPROT TRIM13
gene UNIPROT CXADR
gene UNIPROT CASR
gene UNIPROT NR1I3
gene UNIPROT PRKAR1A
gene UNIPROT SPG7
disease DOID leukemia
disease MESH leukemia
disease MESH cancers
gene UNIPROT TALDO1
gene UNIPROT LRSAM1
pathway BSID Homologous Recombination
pathway BSID Homologous recombination
gene UNIPROT HPGDS
disease MESH drug toxicity
gene UNIPROT CYP27B1
gene UNIPROT SGSM3
gene UNIPROT SAFB
gene UNIPROT RTN3
gene UNIPROT RARB
gene UNIPROT BAG1
gene UNIPROT DEPP1
gene UNIPROT GOPC
gene UNIPROT DELE1
gene UNIPROT CYP3A4
gene UNIPROT ELK3
gene UNIPROT EPHB1
gene UNIPROT SLC6A2
gene UNIPROT RIOX1
gene UNIPROT MNT
gene UNIPROT RIOX2
disease MESH separated
gene UNIPROT CYP2C19
gene UNIPROT GSTP1
drug DRUGBANK Coenzyme M
gene UNIPROT CYP2B6
gene UNIPROT CD200
gene UNIPROT MIXL1
gene UNIPROT DMBT1
gene UNIPROT KIT
gene UNIPROT C5orf38
drug DRUGBANK Aspartame
gene UNIPROT DNMT1
gene UNIPROT CD69
gene UNIPROT CD5L
gene UNIPROT ELL
disease MESH men
gene UNIPROT FRZB
gene UNIPROT CYP3A5
gene UNIPROT CYP2E1
gene UNIPROT CYP2C9
gene UNIPROT CYP1B1
gene UNIPROT CYP1A2
gene UNIPROT CYP1A1
gene UNIPROT RXFP2
gene UNIPROT RASA1
gene UNIPROT RGS6
pathway BSID Xenobiotics
drug DRUGBANK Glutathione
gene UNIPROT CYP2A6
gene UNIPROT UGT2B17
gene UNIPROT GSTM1
gene UNIPROT GSTT1
gene UNIPROT CYP2D7
gene UNIPROT CYP2D6
gene UNIPROT IGSF6
gene UNIPROT GEN1
gene UNIPROT SSRP1
gene UNIPROT MUC1
gene UNIPROT ETFA
disease MESH multiple
gene UNIPROT RNF31
gene UNIPROT ATXN3
pathway BSID Metabolism
gene UNIPROT GSTK1
gene UNIPROT SLCO6A1
gene UNIPROT PPIG

Original Article

Leave a Comment

Your email address will not be published. Required fields are marked *