T594M Mutation of theβ-Subunit of the Epithelial Sodium Channel in Ghanaian Populations from Kumasi and London and a Possible Association with Hypertension
- 1 March 2002
- journal article
- research article
- Published by Mary Ann Liebert Inc in Genetic Testing
- Vol. 6 (1) , 63-65
- https://doi.org/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 β-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.Keywords
This publication has 12 references indexed in Scilit:
- T594M and G442V polymorphisms of the sodium channel β subunit and hypertension in a black populationJournal of Human Hypertension, 2001
- Genetic Analysis of the β Subunit of the Epithelial Na + Channel in Essential HypertensionHypertension, 1998
- Structural organisation of the gene encoding the α-subunit of the human amiloride-sensitive epithelial sodium channelHuman Genetics, 1998
- Association of hypertension with T594M mutation in β subunit of epithelial sodium channels in black people resident in LondonThe Lancet, 1998
- Prevalence, detection, and management of cardiovascular risk factors in different ethnic groups in south LondonHeart, 1997
- Loss of protein kinase C inhibition in the β-T594M variant of the amiloride-sensitive Na + channelProceedings of the National Academy of Sciences, 1997
- Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: A quantitative approachProceedings of the National Academy of Sciences, 1996
- Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channelCell, 1995
- Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndromeNature Genetics, 1995
- Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channelCell, 1994