Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.
OBJECTIVE
Cytochrome P450 is an important monooxygenase responsible for the metabolism of a large variety of structurally diverse compounds. The aim of this study was to systematically investigate the DNA sequence variations in 14 cytochrome P450 genes relevant to drug metabolism in the Han Chinese population.


METHODS
We sequenced these 14 genes in 23 subjects and determined the allele frequencies.


RESULTS
We identified a total of 312 genetic variants, which included 80 (25.6%) novel variants. These novel variants included 67 noncoding variants, four synonymous and nine nonsynonymous variants. Among these variants, an 11-nucleotide insertion in the 3-flanking site of intron 6 in CYP2E1 (c.968-77_-76insGATGGGTGGAT) had the highest allele frequency of 0.565. A total of 16 of these novel variants were predicted to have potential functional consequences; however, among them only c.-1299T>A in CYP2C18 and c.-498C>A in CYP2D6 reached a frequency of 4.9%.


CONCLUSIONS
This study establishes a genetic database of cytochrome P450 genes in the Han Chinese population and suggests further genetic diversity throughout this important gene family.
Wang
Hui-Hung
HH
Institute of Biomedical Sciences, Academia Sinica, No 128, Sec. 2, Academia Road, Nankang, Taipei 11529, Taiwan.
Liao
Yie-Wen
YW
Chiang
Hung-Lun
HL
Wu
Jer-Yuarn
JY
Chen
Yuan-Tsong
YT
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004251:DNA Transposable Elements; D030541:Databases, Genetic; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D005843:Geography; D006801:Humans; D007438:Introns; D011110:Polymorphism, Genetic; D012016:Reference Values; D013624:Taiwan
D004251:DNA Transposable Elements; D003577:Cytochrome P-450 Enzyme System; D019392:Cytochrome P-450 CYP2E1