title: CYP1A2 polymorphism (C > A at position -163) in Ovambos, Koreans and Mongolians.
abstract: Cytochrome P450 1A2 (CYP1A2) plays an important role in metabolizing drugs and xenobiotics, and is a possible participant in the development of several human diseases. Recent studies have shown that genetic polymorphism of -163 C > A single nucleotide mutation of CYP1A2 increases the risk of myocardial infarction and modulates CYP1A2 activity. In this study, we investigated the frequency of the -163 C > A mutation in Ovambos (n = 177), Koreans (n = 250) and Mongolians (n = 153) and compared our results with other studies. Detection of this single nucleotide polymorphism was by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP). The frequencies of mutation (CYP1A2*-163A) in the Ovambos, Koreans and Mongolians were 0.46, 0.32 and 0.21, respectively. Ovambos showed a relatively higher frequency of mutation, similar to that of Tanzanians, while the Mongolians showed the lowest frequency of all study groups, including those from previous studies. This study is the first to investigate the distribution of the CYP1A2 (-163 C > A single nucleotide polymorphism) mutant allele in Ovambo, Korean and Mongolian populations.
authors.affiliation: Department of Legal Medicine, Shimane University School of Medicine, Izumo, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Fujihara
authors.forename: Kuninori
authors.initials: K
authors.lastname: Shiwaku
authors.forename: Yuing
authors.initials: Y
authors.lastname: Xue
authors.forename: Kaori
authors.initials: K
authors.lastname: Kataoka
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hieda
authors.forename: Haruo
authors.initials: H
authors.lastname: Takeshita
mesh_terms: D000225:Adenine; D044466:Asian People / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D019388:Cytochrome P-450 CYP1A2 / Q000235:genetics*; D003596:Cytosine; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea / Q000208:ethnology; D008986:Mongolia / Q000208:ethnology; D009154:Mutation / Q000235:genetics; D009276:Namibia / Q000208:ethnology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D003596:Cytosine; D019388:Cytochrome P-450 CYP1A2; D000225:Adenine