The global distribution of the p.R1193Q polymorphism in the SCN5A gene

Leg Med (Tokyo). 2016 Mar:19:72-6. doi: 10.1016/j.legalmed.2015.07.010. Epub 2015 Jul 22.

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.

Keywords: Asian population; Mutation; Sodium channel, voltage-gated, type V, alpha subunit (SCN5A); Sudden cardiac death; p.R1193Q.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Black People / genetics
  • Death, Sudden, Cardiac*
  • Female
  • Genetics, Population*
  • Genotype
  • Humans
  • Male
  • Mutation
  • NAV1.5 Voltage-Gated Sodium Channel / genetics*
  • Polymorphism, Single Nucleotide
  • White People / statistics & numerical data

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human