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Copy number variation profiling in pharmacogenetics CYP-450 and GST genes in Colombian population.
Ramírez, Brian; Niño-Orrego, María José; Cárdenas, Daniel; Ariza, Kevin Enrique; Quintero, Karol; Contreras Bravo, Nora Constanza; Tamayo-Agudelo, Caroll; González, María Alejandra; Laissue, Paul; Fonseca Mendoza, Dora Janeth.
Afiliação
  • Ramírez B; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Niño-Orrego MJ; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Cárdenas D; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Ariza KE; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Quintero K; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Contreras Bravo NC; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Tamayo-Agudelo C; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • González MA; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Laissue P; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia.
  • Fonseca Mendoza DJ; GENIUROS Research Group, Center For Research in Genetics and Genomics - CIGGUR, School of Medicine and Health Sciences, Universidad Del Rosario, Carrera 24 N° 63C-69, CP 112111, Bogotá DC, Colombia. dora.fonseca@urosario.edu.co.
BMC Med Genomics ; 12(1): 110, 2019 07 19.
Artigo em Inglês | MEDLINE | ID: mdl-31324178
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.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Assunto principal: Farmacogenética / Sistema Enzimático do Citocromo P-450 / Variações do Número de Cópias de DNA / Glutationa Transferase Limite: Humanos País/Região como assunto: América do Sul / Colômbia Idioma: Inglês Revista: BMC Med Genomics Assunto da revista: Genética Médica Ano de publicação: 2019 Tipo de documento: Artigo País de afiliação: Colômbia