Twelve Novel Single Nucleotide Polymorphisms in the CES2 Gene Encoding Human Carboxylesterase 2 (hCE-2)

Su-Ryang KIM; Takahiro NAKAMURA; Yoshiro SAITO; Kimie SAI; Toshiharu NAKAJIMA; Hirohisa SAITO; Kuniaki SHIRAO; Hironobu MINAMI; Atsushi OHTSU; Teruhiko YOSHIDA; Nagahiro SAIJO; Shogo OZAWA; Jun-ichi SAWADA

doi:10.2133/dmpk.18.327

SNP Communication

Twelve Novel Single Nucleotide Polymorphisms in the CES2 Gene Encoding Human Carboxylesterase 2 (hCE-2)

Su-Ryang KIM, Takahiro NAKAMURA, Yoshiro SAITO, Kimie SAI, Toshiharu NAKAJIMA, Hirohisa SAITO, Kuniaki SHIRAO, Hironobu MINAMI, Atsushi OHTSU, Teruhiko YOSHIDA, Nagahiro SAIJO, Shogo OZAWA, Jun-ichi SAWADA

Author information

Su-Ryang KIM
Project team for Pharmacogenetics, National Institute of Health Sciences
Takahiro NAKAMURA
Project team for Pharmacogenetics, National Institute of Health Sciences
Yoshiro SAITO
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences
Kimie SAI
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Xenobiotic Metabolism and Disposition, National Institute of Health Sciences
Toshiharu NAKAJIMA
Division of Allergy and Immunology, National Research Institute for Child Health and Development, National Center for Child Health and Development
Hirohisa SAITO
Division of Allergy and Immunology, National Research Institute for Child Health and Development, National Center for Child Health and Development
Kuniaki SHIRAO
Gastrointestinal Oncology Division, National Cancer Center Research Institute
Hironobu MINAMI
Division of Oncology/Hematology, National Cancer Center Hospital East
Atsushi OHTSU
Division of GI Oncology/Digestive Endoscopy, National Cancer Center Hospital East
Teruhiko YOSHIDA
Genetics Division, National Cancer Center Research Institute
Nagahiro SAIJO
Medical Oncology Division, National Cancer Center Hospital, National Cancer Center Research Institute
Shogo OZAWA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Pharmacology, National Institute of Health Sciences
Jun-ichi SAWADA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

Keywords: CES2, amino acid alteration, intron, novel SNP

JOURNAL FREE ACCESS

2003 Volume 18 Issue 5 Pages 327-332

DOI https://doi.org/10.2133/dmpk.18.327

Details

Abstract

Twelve novel single nucleotide polymorphisms (SNPs) were found in the CES2 gene from 153 Japanese individuals, who were administered irinotecan or steroidal drugs. The detected SNPs were as follows:
1) SNP, MPJ6_CS2001; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CTGGAACAACTCG/CCTCCCCTCGGAA-3'
2) SNP, MPJ6_CS2002; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-AACCACCACCGCT/CGATCCTAGCAGG-3'.
3) SNP, MPJ6_CS2003; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-AAATGTTTGTCAA/GGTGGATAAATGA-3'
4) SNP, MPJ6_CS2004; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CCTCCTATCGATC/GCCCCAGCGCGCT-3'
5) SNP, MPJ6_CS2005; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-GCCAGTCCCATCC/TGGACCACACACA-3'
6) SNP, MPJ6_CS2006; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-GCTGGGCAACCCG/AGGCTGAGCGGGG-3'
7) SNP, MPJ6_CS2007; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CAAGCACGCAACC/TGGCAACTGGGGC-3'
8) SNP, MPJ6_CS2008; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CATGGAGAGTGGC/TGTGGCCCTCCTG-3'
9) SNP, MPJ6_CS2009; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CCTGTTCTTGGCC/TAGGGCCTTGGGC-3'
10) SNP, MPJ6_CS2010; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-CCCATCCCCAGCT/AACAGACTCTCTC-3'
11) SNP, MPJ6_CS2011; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-TCCACCTGGGGTA/GGATGTTGCCTCC-3'
12) SNP, MPJ6_CS2013; GENE NAME, CES2; ACCESSION NUMBER, NT_010498.13; LENGTH, 25 bases; 5'-GGACTGGGGACCG/AAGGTCTCGGGGG-3'
The frequencies were 0.029 for MPJ6_CS2004 and CS2013, 0.026 for MPJ6_CS2009, 0.013 for MPJ6_CS2001, 0.007 for MPJ6_CS2003, and 0.003 for the other 7 SNPs. Among these SNPs, MPJ6_CS2005 (100C>T) resulted in an amino acid alteration (R34W), and MPJ6_CS2007 (579C>T) and MPJ6_CS2008 (765C>T) were synonymous (T193T and G255G, respectively). Furthermore, MPJ6_CS2011 (IVS8-2A>G) resulted in variation at ther 3' splice acceptor site.

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