T594M and G442V polymorphisms of the sodium channel β subunit and hypertension in a black population

Y. B. Dong, H. D. Zhu, E. H. Baker, G. A. Sagnella, G. A. Macgregor, N. D. Carter, P. D. Wicks, D. G. Cook, F. P. Cappuccio

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Polymorphisms of the epithelial sodium channel may raise blood pressure by increasing renal sodium reabsorption. This study examines frequency distributions and associations with hypertension of the T594M and of the G442V polymorphisms of the β subunit of the epithelial sodium channel in a population-based sample. We studied a stratified random sample of 459 subjects (279 women), aged 40-59 years, of black African origin from general practices' lists within a defined area of South London. All were first generation immigrants. The polymorphic variants were detected using single strand conformational polymorphism technique (SSCP). The prevalence of hypertension (BP ≥ 160 and/or 95 mm Hg or on drug therapy) was 43%; of these, 76% were on drug therapy. The main analysis was carried out by three ordered blood pressure categories (I to III) according to increasing blood pressure and presence or absence of drug therapy. The frequency of the 594M variant (heterozygotes and homozygotes) was 4.6%; the frequency of the 442V variant was higher (27.0%). The frequency of the 594M variant increased with increasing blood pressure category (P = 0.05) and was more common in hypertensives than normotensives. By contrast the frequency of the 442V variant did not vary across increasing blood pressure categories (P = 0.62). No gender difference was observed. Adjustment for age, sex and body mass index did not alter these findings. These results suggest that the 594M variant may contribute to high blood pressure in black people of African origin whereas the G442V polymorphism is unlikely to influence blood pressure in this population.

Original languageEnglish (US)
Pages (from-to)425-430
Number of pages6
JournalJournal of Human Hypertension
Issue number6
Publication statusPublished - Jun 27 2001
Externally publishedYes



  • Black people of African origin
  • Epidemiology
  • Genetics
  • Sodium channel

ASJC Scopus subject areas

  • Internal Medicine

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