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.
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.
Bravo-Villalta
Heydy Varinia
HV
Department of Clinical Pharmacology, Graduate School of Medicine, Gunma University, 3-39-22 Showa-machi, Maebashi, 371-8511, Japan.
Yamamoto
Koujirou
K
Department of Clinical Pharmacology, Graduate School of Medicine, Gunma University, 3-39-22 Showa-machi, Maebashi, 371-8511, Japan.
Nakamura
Katsunori
K
Department of Clinical Pharmacology, Graduate School of Medicine, Gunma University, 3-39-22 Showa-machi, Maebashi, 371-8511, Japan.
Bayá
Ana
A
Dirección Nacional de Investigación, Universidad Privada del Valle (Univalle), Cochabamba, Bolivia.
Horiuchi
Ryuya
R
Department of Clinical Pharmacology, Graduate School of Medicine, Gunma University, 3-39-22 Showa-machi, Maebashi, 371-8511, Japan. horiuchi@med.gunma-u.ac.jp.
D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065727:Cytochrome P-450 CYP2C8; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D013020:South America
D017931:DNA Primers; D001189:Aryl Hydrocarbon Hydroxylases; C450259:CYP2C8 protein, human; D065727:Cytochrome P-450 CYP2C8