Five Novel Single Nucleotide Polymorphisms in the EPHX1 Gene Encoding Microsomal Epoxide Hydrolase

• Published in: DRUG METABOLISM AND PHARMACOKINETICS Vol. 18; no. 2; pp. 150 - 153
• Main Authors: Shiseki, Kisho, Itoda, Masaya, Saito, Yoshiro, Nakajima, Yukiko, Maekawa, Keiko, Kimura, Hideo, Goto, Yu-ichi, Saitoh, Osamu, Katoh, Masaaki, Ohnuma, Teiichi, Kawai, Mitsuru, Sugai, Kenji, Ohtsuki, Taisuke, Suzuki, Chieko, Minami, Narihiro, Ozawa, Shogo, Sawada, Jun-ichi
• Format: Journal Article
• Language: English; Japanese
• Published: England Elsevier Ltd 2003; Japanese Society for the Study of Xenobiotics
• Subjects: drug metabolism; EPHX1; non-synonymous alteration; novel SNPs; non-synonymous alteration; novel SNPs; EPHX1; drug metabolism
• ISSN: 1347-4367; 1880-0920
• DOI: 10.2133/dmpk.18.150

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).