Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase

Kisho Shiseki; Masaya Itoda; Yoshiro Saito; Yukiko Nakajima; Keiko Maekawa; Hideo Kimura; Yu-ichi Goto; Osamu Saitoh; Masaaki Katoh; Teiichi Ohnuma; Mitsuru Kawai; Kenji Sugai; Taisuke Ohtsuki; Chieko Suzuki; Narihiro Minami; Shogo Ozawa; Jun-ichi Sawada

doi:10.2133/dmpk.18.150

Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase

Drug Metab Pharmacokinet. 2003;18(2):150-3. doi: 10.2133/dmpk.18.150.

Authors

Kisho Shiseki¹, Masaya Itoda, Yoshiro Saito, Yukiko Nakajima, Keiko Maekawa, Hideo Kimura, Yu-ichi Goto, Osamu Saitoh, Masaaki Katoh, Teiichi Ohnuma, Mitsuru Kawai, Kenji Sugai, Taisuke Ohtsuki, Chieko Suzuki, Narihiro Minami, Shogo Ozawa, Jun-ichi Sawada

Affiliation

¹ Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.

PMID: 15618730
DOI: 10.2133/dmpk.18.150

Abstract

Five novel single nucleotide polymorphisms (SNPs) were found in the EPHX1 gene from 96 Japanese epileptic patients. The detected SNPs were as follows: 1) SNP, MPJ6_EX1009; GENE NAME, EPHX1 ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-CCTCACTTCAGTG/ACTGGGCTTTGCC-3'. 2) SNP, MPJ6_EX1013; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TCCGCAGCCAGGG/CAGGACGACAGCA-3'. 3) SNP, MPJ6_EX1026; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-GTTCTCCCTGGAC/TGACCTGCTGACC-3'. 4) SNP, MPJ6_EX1028; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-AGGCAGGGGGACG/AGCCAGTCTTGGG-3'. 5) SNP, MPJ6_EX1030; GENE NAME, EPHX1; ACCESSION NUMBER, NT_004525.12; LENGTH, 25 bases; 5'-TGAAAAGTGGGTG/AAGGTTCAAGTAC-3'. The frequencies were 0.016 for MPJ6_EX1028 (IVS8+54G>A) and 0.005 for the other SNPs. The SNP MPJ6_EX1013 (130G>C) results in an amino acid alteration (E44Q). The other three SNPs in the coding region, MPJ6_EX1009 (30G>A), MPJ6_EX1026 (1056C>T), and MPJ6_EX1030 (1239G>A) result in synonymous changes (V10V, D352D, and V413V, respectively).