Three Novel Single Nucleotide Polymorphisms (SNPs) of the CYP2B6 Gene in Japanese Individuals

Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan.
Drug Metabolism and Pharmacokinetics (Impact Factor: 2.57). 05/2004; 19(2):155-8. DOI: 10.2133/dmpk.19.155
Source: PubMed


We sequenced all exons and exon-intron junctions of the CYP2B6 gene from 200 Japanese individuals. We found three novel single nucleotide polymorphisms (SNPs) (1375A>G, 1427G>A and 1454A>T) causing amino acid substitutions (Met(459)Val, Gly(476)Asp and Gln(485)Leu in exon 9), respectively. The detected SNP was as follows: 1) SNP, 031226Hiratsuka01; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CAGAACTTCTCCA/GTGGCCAGCCCCG-3'. 2) SNP, 031226Hiratsuka02; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCAGGAGTGTGG/ATGTGGGCAAAAT-3'. 3) SNP, 031226Hiratsuka03; GENE NAME, CYP2B6; ACCESSION NUMBER, AC023172; LENGTH, 25 base; 5'-CCCCAACATACCA/TGATCCGCTTCCT-3'.

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Available from: Masahiro Hiratsuka
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    • "Some of these variations are rare, but many are common, with allele frequencies between 10% and almost 50%, depending on the population (Klein et al. 2005; Solus et al. 2004). Ethnic or racial inter-individual CYP2B6 polymorphism in various populations has been reported in Caucasians (Lang et al. 2001), Japanese (Hiratsuka et al. 2002and Hiratsuka et al. 2004), African-American-Hispanic (Lamba et al. 2003; Hesse et al. 2004), Korean (Cho et al. 2004), Mongolian (Davalkham et al. 2009), Spain (Novoa et al. 2005), and South Indians (Ramachandran et al. 2009), but not in North Indian population, and, hence, CYP2B6 was selected in this study. "
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