Single-nucleotide polymorphisms for diagnosis of salt-sensitive hypertension

Clin Chem. 2006 Mar;52(3):352-60. doi: 10.1373/clinchem.2005.059139. Epub 2006 Jan 26.

Abstract

Background: Salt-sensitive (SS) hypertension affects >30 million Americans and is often associated with low plasma renin activity. We tested the diagnostic validity of several candidate genes for SS and low-renin hypertension.

Methods: In Japanese patients with newly diagnosed, untreated hypertension (n = 184), we studied polymorphisms in 10 genes, including G protein-coupled receptor kinase type 4 (GRK4), some variations of which are associated with hypertension and impair D1 receptor (D1R)-inhibited renal sodium transport. We used the multifactor dimensionality reduction method to determine the genotype associated with salt sensitivity (> or =10% increase in blood pressure with high sodium intake) or low renin. To determine whether the GRK4 genotype is associated with impaired D1R function, we tested the natriuretic effect of docarpamine, a dopamine prodrug, in normotensive individuals with or without GRK4 polymorphisms (n = 18).

Results: A genetic model based on GRK4 R65L, GRK4 A142V, and GRK4 A486V was 94.4% predictive of SS hypertension, whereas the single-locus model with only GRK4 A142V was 78.4% predictive, and a 2-locus model of GRK4 A142V and CYP11B2 C-344T was 77.8% predictive of low-renin hypertension. Sodium excretion was inversely related to the number of GRK4 variants in hypertensive persons, and the natriuretic response to dopaminergic stimulation was impaired in normotensive persons having > or =3 GRK4 gene variants.

Conclusions: GRK4 gene variants are associated with SS and low-renin hypertension. However, the genetic model predicting SS hypertension is different from the model for low renin, suggesting genetic differences in these 2 phenotypes. Like low-renin testing, screening for GRK4 variants may be a useful diagnostic adjunct for detection of SS hypertension.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People
  • Biological Transport
  • Blood Pressure
  • Cohort Studies
  • Diet
  • Dopamine / analogs & derivatives
  • Dopamine / pharmacology
  • Female
  • G-Protein-Coupled Receptor Kinase 4
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypertension / diagnosis*
  • Hypertension / physiopathology
  • Japan
  • Male
  • Middle Aged
  • Models, Genetic
  • Natriuretic Agents / pharmacology
  • Polymorphism, Genetic
  • Prodrugs / pharmacology
  • Protein Serine-Threonine Kinases / genetics
  • Receptors, Dopamine D1 / agonists
  • Receptors, Dopamine D1 / physiology
  • Renin / blood
  • Sodium / metabolism
  • Sodium Chloride, Dietary / administration & dosage*

Substances

  • Natriuretic Agents
  • Prodrugs
  • Receptors, Dopamine D1
  • Sodium Chloride, Dietary
  • Sodium
  • Protein Serine-Threonine Kinases
  • G-Protein-Coupled Receptor Kinase 4
  • GRK4 protein, human
  • Renin
  • docarpamine
  • Dopamine