T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension

Genet Test. 2002 Spring;6(1):63-5. doi: 10.1089/109065702760093942.

Abstract

We have tested 186 individuals from Ghana, 95 indigenous and 91 who have settled in the United Kingdom, for the presence of the T594M mutation in the beta-subunit of the epithelial sodium channel, which is associated with hypertension in black populations. The group living in Ghana had a mean age of 27 years and were normotensive, but had an increased frequency of the T allele compared to the London-based population. If this is reflected in larger studies, and the link with hypertension is maintained in the Ghanaian population, this mutation could be a significant cause of hypertension in Ghana.

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Black People / genetics
  • Epithelium / metabolism
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Ghana
  • Humans
  • Hypertension / genetics
  • London / ethnology
  • Male
  • Mutation, Missense*
  • Sodium Channels / genetics*

Substances

  • Sodium Channels