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 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.
Soyama
Akiko
A
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Kubo
Takashi
T
Miyajima
Atsuko
A
Saito
Yoshiro
Y
Shiseki
Kisho
K
Komamura
Kazuo
K
Ueno
Kazuyuki
K
Kamakura
Shiro
S
Kitakaze
Masafumi
M
Tomoike
Hitonobu
H
Ozawa
Shogo
S
Sawada
Jun-ichi
J
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*
D019389:Cytochrome P-450 CYP2D6