Pyrosequencing of the CYP2C9 -1766T>C polymorphism as a means of detecting the CYP2C9*8 allele

Pharmacogenomics. 2014 Sep;15(13):1717-22. doi: 10.2217/pgs.14.130.

Abstract

The CYP2C9 c.449G>A (p.R150H, rs7900194) polymorphism, which confers the CYP2C9*8 allele, is common in persons of African descent and results in reduced clearance of the narrow therapeutic index drugs, warfarin and phenytoin. Because of significant homology in DNA sequence at the 449G>A locus among CYP2C genes, the 449G>A variant cannot be reliably detected via PCR-based genotyping assays that require a short PCR product, such as pyrosequencing. Herein, we propose genotyping for the CYP2C9 c.-1766T>C polymorphism via pyrosequencing as an alternative and accurate means of identifying the CYP2C9*8 allele.

Keywords: CYP2C9 -1766T>C; CYP2C9*8; genotyping; pyrosequencing; warfarin.

MeSH terms

  • Alleles
  • Cytochrome P-450 CYP2C9 / genetics*
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA

Substances

  • Cytochrome P-450 CYP2C9