title: Cytochrome P450 CYP2B6 genotypes and haplotypes in a Colombian population:  identification of novel variant CYP2B6 alleles.
abstract: OBJECTIVE
  Information on CYP2B6 allele frequencies and detrimental genotypes in mixed human populations is scarce. The aim of this study was to analyze the frequencies and haplotypes of nonsynonymous CYP2B6 single nucleotide polymorphisms (SNPs) in a Colombian population.
  
  
  METHODS
  One hundred and fifty-two healthy individuals were analyzed for five nonsynonymous CYP2B6 SNPs, namely rs8192709, rs3745274, rs2279343 rs28399499, and rs3211371.
  
  
  RESULTS
  Besides eight known variant alleles, we identified two as yet unknown variant alleles combining, respectively, the SNPs rs3745274 and rs3211371 and rs8192709 and rs3745274. Comparison of Colombian mestizo individuals with other mestizo population indicates statistically significant differences (P<0.001) for the gain-of-function CYP2B6*4 allele and for combined detrimental CYP2B6 alleles. In addition, we observed a low linkage between the SNPs rs3745274 and rs2279343, which are often assumed as linked.
  
  
  CONCLUSIONS
  In conclusion, large interethnic and intraethnic variability exists for CYP2B6 polymorphisms, thus reinforcing the need for tailored genotyping protocols for CYP2B6 testing as a biomarker of drug response.
authors: Departments of Pharmacology, University of Extremadura. Avda. de Elvas, Badajoz, Colombia.
authors: Juan Gonzalo
authors: JG
authors: Restrepo
authors: Carmen
authors: C
authors: Martínez
authors: Augusto
authors: A
authors: García-Agúndez
authors: Elmer
authors: E
authors: Gaviria
authors: José Julio
authors: JJ
authors: Laguna
authors: Elena
authors: E
authors: García-Martín
authors: José A G
authors: JA
authors: Agúndez
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D003105:Colombia; D065702:Cytochrome P-450 CYP2B6; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010089:Oxidoreductases, N-Demethylating / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C585599:CYP2B6 protein, human; D065702:Cytochrome P-450 CYP2B6; D010089:Oxidoreductases, N-Demethylating