High frequency of mutations related to impaired CYP2C9 metabolism in a Caucasian population.
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.
García-Martín
E
E
Department of Biochemistry, School of Biological Sciences, University of Extremadura, Avda. de Elvas s/n. 06071, Badajoz, Spain.
Martínez
C
C
Ladero
J M
JM
Gamito
F J
FJ
Agúndez
J A
JA
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*
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