TY - JOUR
T1 - Novel single nucleotide polymorphism of the CYP2A13 gene in Japanese individuals
AU - Tamaki, Yuichiro
AU - Honda, Masashi
AU - Muroi, Yuka
AU - Arai, Tomio
AU - Sugimura, Haruhiko
AU - Matsubara, Yoichi
AU - Kanno, Shuichi
AU - Ishikawa, Masaaki
AU - Hirasawa, Noriyasu
AU - Hiratsuka, Masahiro
N1 - Funding Information:
On March 7, 2011, the variation was not found in the Japanese Single Nucleotide Polymorphism (JSNP) (http://snp.ims.u-tokyo.ac.jp/) database, the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/SNP/), the Human CYP Allele Nomenclature Committee (http:// www.cypalleles.ki.se/) database, or the PharmGKB (http://www.pharmgkb.org/) database. The CYP2A13 haplotype with 74G>A, 3375C>T, and 5792T>C was assigned as CYP2A13*10 by the Human CYP Allele Nomenclature Committee. This work was supported by a grant from the Smoking Research Foundation and in part by KAKENHI (20590154) from the Japan Society for the Promotion of Science (JSPS).
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2011
Y1 - 2011
N2 - Cytochrome P450 2A13 (CYP2A13) is a human CYP enzyme that is selectively expressed in the respiratory tract. It plays an active role in the metabolic activation of a tobacco-specific procarcinogen. In this study, the entire coding sequence and the exon-intron junctions of the CYP2A13 gene obtained from 395 Japanese individuals were screened for genetic polymorphisms. Eight genetic polymorphisms were found, of which seven gave rise to known variant alleles: CYP2A13*2, CYP2A13*3, CYP2A13*4, CYP2A13*6, and CYP2A13*7. We identified a novel single nucleotide polymorphism (SNP), 5792T>C, in exon 7 that caused an amino acid substitution (Ile331Thr). One of the 395 individuals included in the study was heterozygous for the variant allele, and therefore, the frequency of the allele in the study population was 0.13%.
AB - Cytochrome P450 2A13 (CYP2A13) is a human CYP enzyme that is selectively expressed in the respiratory tract. It plays an active role in the metabolic activation of a tobacco-specific procarcinogen. In this study, the entire coding sequence and the exon-intron junctions of the CYP2A13 gene obtained from 395 Japanese individuals were screened for genetic polymorphisms. Eight genetic polymorphisms were found, of which seven gave rise to known variant alleles: CYP2A13*2, CYP2A13*3, CYP2A13*4, CYP2A13*6, and CYP2A13*7. We identified a novel single nucleotide polymorphism (SNP), 5792T>C, in exon 7 that caused an amino acid substitution (Ile331Thr). One of the 395 individuals included in the study was heterozygous for the variant allele, and therefore, the frequency of the allele in the study population was 0.13%.
KW - CYP2A13
KW - Genetic polymorphism
KW - Japanese
KW - SNP
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U2 - 10.2133/dmpk.DMPK-11-SC-033
DO - 10.2133/dmpk.DMPK-11-SC-033
M3 - Article
C2 - 21606606
AN - SCOPUS:80055088430
VL - 26
SP - 544
EP - 547
JO - Drug Metabolism and Pharmacokinetics
JF - Drug Metabolism and Pharmacokinetics
SN - 1347-4367
IS - 5
ER -