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Distribution of CYP2C9*13 allele in the Chinese Han and the long-range haplotype containing CYP2C9*13 and CYP2C19*2.

Biopharm Drug Dispos. 2012 Aug 8;

Authors: Si D, Wang J, Zhang Y, Zhong D, Zhou H


Cytochrome P450 2C9 (CYP2C9) and CYP2C19, located in tandem on chromosome 10q23-24, are known as genetically polymorphic. CYP2C9*13 is an important CYP2C9 variant in Asian population, and is correlated with reduced plasma clearance of some clinically important drugs. In this research, we determined the allele frequency of CYP2C9*13 to be 0.42% (95% CI of 0.17% to 0.86%) in 839 Chinese Han, male subjects. All detected subjects with CYP2C9*13 carry the CYP2C19*2 allele, too. Sequencing results infer the CYP2C9*13 haplotype, which contains eight linked SNPs, originates from CYP2C9*1B haplotypes group. CYP2C9*1B has been reported to be linked with CYP2C19*2. These indicate a long-range haplotype containing CYP2C9*13 and CYP2C19*2 mutation, which means most CYP2C9*13 carriers will carry the CYP2C19*2 allele and the six SNPs of CYP2C9*1B haplotypes group, and may have more reduced intrinsic clearance of drugs such as phenytoin, tolbutamide and chlorpropamide that are metabolized by both CYP2C9 and CYP2C19. Copyright © 2012 John Wiley & Sons, Ltd.

PMID: 22886551 [PubMed - as supplied by publisher]