title: Novel nonsynonymous single nucleotide polymorphisms in the CYP2D6 gene.
abstract: 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, 73C>T, 972 C>T, 1611 T>A, 1720 A>C and 3172 A>C were linked with *10, *1, *10, *1 and *2, respectively.
authors.affiliation: Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Soyama
authors.forename: Takashi
authors.initials: T
authors.lastname: Kubo
authors.forename: Atsuko
authors.initials: A
authors.lastname: Miyajima
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Kisho
authors.initials: K
authors.lastname: Shiseki
authors.forename: Kazuo
authors.initials: K
authors.lastname: Komamura
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Ueno
authors.forename: Shiro
authors.initials: S
authors.lastname: Kamakura
authors.forename: Masafumi
authors.initials: M
authors.lastname: Kitakaze
authors.forename: Hitonobu
authors.initials: H
authors.lastname: Tomoike
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D019389:Cytochrome P-450 CYP2D6