title: The global distribution of the p.R1193Q polymorphism in the SCN5A gene.
abstract: The SCN5A (sodium channel, voltage-gated, type V, alpha subunit) gene encodes the cardiac sodium channel, a member of the voltage-gated sodium channel family. The p.R1193Q (c.3578G>A) polymorphism in SCN5A is known to accelerate inactivation of the sodium channel current, and has been identified in patients with Brugada and long QT syndromes. In the present study, we investigated the frequency of the p.R1193Q substitution in more than 4000 genomic DNA samples from 34 Asian, European, and African populations using TaqMan and/or APLP (amplified product length polymorphism) assays. Allele A (p.1193Q) was detected in most Asian populations, but was sporadically observed or absent in European and African populations. These results demonstrated that the p.R1193Q substitution is characteristic of Asian populations.
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan. Electronic address: miyoshi@fukuoka-u.ac.jp.
authors.forename: Aya
authors.initials: A
authors.lastname: Matsusue
authors.affiliation: Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: Isao
authors.initials: I
authors.lastname: Yuasa
authors.affiliation: Department of Forensic Medicine, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Umetsu
authors.affiliation: Department of Legal Medicine, Iwate Medical University School of Medicine, Morioka, Japan.
authors.forename: Nori
authors.initials: N
authors.lastname: Nakayashiki
authors.affiliation: Department of Legal Medicine, Iwate Medical University School of Medicine, Morioka, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Dewa
authors.affiliation: Division of Legal Medicine, Ehime University Graduate School of Medicine, Toon, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Nishimukai
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kashiwagi
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Hara
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Brian
authors.initials: B
authors.lastname: Waters
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Takayama
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Natsuki
authors.initials: N
authors.lastname: Ikematsu
authors.affiliation: Department of Forensic Medicine, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan.
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Kubo
mesh_terms: D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D016757:Death, Sudden, Cardiac; D005260:Female; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000706:statistics & numerical data
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Asian population; Mutation; Sodium channel, voltage-gated, type V, alpha subunit (SCN5A); Sudden cardiac death; p.R1193Q