Abstract
During the investigation of a CYP2C8*3 genetic polymorphism in a South American population, we obtained a discrepant result using two different polymerase chain reaction (PCR) protocols. A single nucleotide polymorphism (SNP) (IVS3+43 G>C) was identified in the intron 3 region, which was used as a primer-annealing site of one of the two PCR protocols. A genotyping method was developed to enable discrimination of the CYP2C8*1A, CYP2C8*3 (416 G>A), and CYP2C8*3 (416G>A; IVS3+43 G>C) alleles. In a screen of a South American population, we found that individuals carrying the CYP2C8*3 (416 G>A) polymorphism also carried the CYP2C8*3 (416G>A; IVS3+43 G>C). However, we did not find any carriers of CYP2C8*3 (416G>A; IVS3+43 G>C) in a Japanese population.
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Badahur N, Leathart JB, Mutch E, Steimel-Crespi D, Dunn SA, Gilissen R et al (2002) CYP2C8 polymorphisms in Caucasians and their relationship with paclitaxel 6α-hydroxylase activity in human liver microsomes. Biochem Pharmacol 64:1579–89
Bravo-Villalta HV, Yamamoto K, Nakamura K, Baya A, Okada Y, Horiuchi R (2005) Genetic polymorphism of CYP2C9 and CYP2C19 in a Bolivian population: an investigative and comparative study. Eur J Clin Pharmacol 61:179–184
Dai D, Zeldin DC, Blaisdell JA, Chanas B, Coulter SJ, Ghanayem BI, Goldstein JA (2001) Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug paclitaxel and arachidonic acid. Pharmacogenetics 11:597–607
Nakajima M, Fujiki Y, Noda K, Ohtsuka H, Ohkuni H, Kyo S et al (2003) Genetic Polymorphism of CYP2C8 in Japanese population. Drug Metab Dis 31:687–690
Soyama A, Saito Y, Hanioka N, Murayama N, Nakajima O, Katori N et al (2001) Non-synonymous single nucleotide alterations found in the CYP2C8 gene result in reduced in vitro paclitaxel metabolism. Biol Pharm Bull 24:1427–30
Acknowledgments
This study was supported by a grant from the Ministry of Education, Culture, Sports, Science and Technology of Japan.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Bravo-Villalta, H.V., Yamamoto, K., Nakamura, K. et al. A novel intronic mutation that may affect genotyping result of CYP2C8 by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) is strongly associated with CYP2C8*3 in a South American population. J Hum Genet 52, 195–199 (2007). https://doi.org/10.1007/s10038-006-0097-y
Received:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1007/s10038-006-0097-y
Keywords
This article is cited by
-
Global variation in CYP2C8âCYP2C9 functional haplotypes
The Pharmacogenomics Journal (2009)
