title: High frequency of mutations related to impaired CYP2C9 metabolism in a Caucasian population.
abstract: OBJECTIVE
  To search for ethnic variability in the impact of cytochrome P450 2C9 (CYP2C9) polymorphism.
  
  
  METHODS
  CYP2C9 allelic variants related to impaired CYP2C9 metabolism were analysed in genomic DNA from 157 Spanish healthy subjects using amplification-restriction and sequencing procedures.
  
  
  RESULTS
  The frequency for CYP2C9 mutated alleles is higher among the Spanish subjects analysed than that reported for other Caucasian individuals: CYP2C9*2, 0.143 and CYP2C9*3, 0.162 (P = 0.0001). Nearly 10% of the individuals studied are expected to metabolise deficiently CYP2C9 substrates.
  
  
  CONCLUSIONS
  In some Caucasian populations the impact of the CYP2C9 polymorphism may be much higher than that estimated from genotyping studies published to date.
authors.affiliation: Department of Biochemistry, School of Biological Sciences, University of Extremadura, Avda. de Elvas s/n. 06071, Badajoz, Spain.
authors.forename: E
authors.initials: E
authors.lastname: García-Martín
authors.forename: C
authors.initials: C
authors.lastname: Martínez
authors.forename: J M
authors.initials: JM
authors.lastname: Ladero
authors.forename: F J
authors.initials: FJ
authors.lastname: Gamito
authors.forename: J A
authors.initials: JA
authors.lastname: Agúndez
mesh_terms: D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases; D016009:Chi-Square Distribution; D016001:Confidence Intervals; D065729:Cytochrome P-450 CYP2C9; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics* / Q000378:metabolism*; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D039181:Steroid 16-alpha-Hydroxylase; D013250:Steroid Hydroxylases / Q000235:genetics* / Q000378:metabolism*; D044465:White People / Q000235:genetics*
chemical_list: D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; D001189:Aryl Hydrocarbon Hydroxylases; D039181:Steroid 16-alpha-Hydroxylase