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October 10, 2011Cardiovascular journal of South Africa/Cardiovascular journal of Southern AfricaOpen Access

The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension : cardiovascular topics

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Why the study?

Is the R563Q mutation of the epithelial sodium channel beta-subunit associated with hypertension in affected kindreds?

Population

136 individuals (45 index patients and members of their kindreds)

Comparison

Heterozygous for the R563Q mutation of the… vs Homozygous RR (without the R563Q mutation)

Design

Cross-sectional

Authors

EJErika JonesSouth African Medical Research CouncilEOE.P. OwenUniversity of Cape TownJDJames S. DavidsonAuburn University

Discussion

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Implication

R563Q heterozygosity may support family-based BP screening; leaves open causality and population-level relevance.

Key Points

  • To assess the association of the β-ENaC R563Q mutation with hypertension within affected kindreds on a more uniform genetic background.
  • Evaluated 136 individuals across 45 kindreds identified through index patients carrying the R563Q mutation.
  • Measured blood pressure, serum potassium concentrations, and presence of the R563Q variant.
  • Mean arterial pressure was significantly higher in R563Q heterozygotes than homozygous RR controls after adjusting for age, gender, race, and kindred membership (p = 0.005).
  • Hypertension was diagnosed in 80% (71/89) of R563Q heterozygotes compared to 36% (17/47) of homozygous RR individuals.
  • Hypokalaemia was observed in 6 heterozygous subjects and 1 homozygous RR subject (not statistically significant), while 2 heterozygous individuals developed full Liddle's syndrome during pregnancy.

Structured PICO

Is the R563Q mutation of the epithelial sodium channel beta-subunit associated with hypertension in affected kindreds?

P
Population
136 individuals (45 index patients and members of their kindreds)
I
Intervention
Heterozygous for the R563Q mutation of the epithelial sodium channel beta-subunit
C
Comparator
Homozygous RR (without the R563Q mutation)
O
Outcome
Mean arterial pressure and presence of hypertensionsurrogate

The R563Q mutation of the epithelial sodium channel beta-subunit is significantly associated with hypertension within affected families, though it rarely causes the full Liddle's syndrome phenotype.

Cite This Study

Jones et al. (2011) studied this question.

synapsesocial.com/papers/6a71359fb27f15817827aba4https://doi.org/10.5830/cvja-2010-084

Topics

Hypertension management
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genetic analysis of the epithelial sodium channel in Liddleʼs syndrome1998 · 60 citations
  2. 2A FAMILY WITH LIDDLE'S SYNDROME CAUSED BY A MUTATION IN THE β SUBUNIT OF THE EPITHELIAL SODIUM CHANNEL2001 · 25 citations
  3. 3Genotype–phenotype analysis of a newly discovered family with Liddleʼs syndrome1997 · 96 citations