Novel Nonsynonymous Single Nucleotide Polymorphisms in the CYP2D6 Gene

Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Jap...

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Published in:DRUG METABOLISM AND PHARMACOKINETICS 2004, Vol.19 (4), p.313-319
Main Authors: Akiko SOYAMA, Takashi KUBO, Atsuko MIYAJIMA, Yoshiro SAITO, Kisho SHISEKI, Kazuo KOMAMURA, Kazuyuki UENO, Shiro KAMAKURA, Masafumi KITAKAZE, Hitonobu TOMOIKE, Shogo OZAWA, Jun-ichi SAWADA
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Language:Japanese
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Summary:Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Japanese subjects. Two of the novel nonsynonymous SNPs were associated with the *10 key SNP, C100T. Among the 65 variations, 23 were novel, including 12 SNPs in 5'-flanking, 1 in 5'-untranslated, and 10 in intronic regions. The nonsynonymous SNPs in the CYP2D6 gene were as follows：73 C>T (Arg25Trp, exon 1), 972 C> T (Ala90Val, exon 2), 1611 T>A (Phe120Ile, exon 3), 1720 A>C (Glu156Ala, exon 3), 3172 A>C (Glu334Ala, exon 7). The SNPs, 73 C>T, 972 C>T, 1611 T >A, 1720 A>C and 3172 A>C were linked with *10, *1, *10, *1 and *2, respectively.
ISSN:1347-4367