β-T594M epithelial sodium channel gene polymorphism and essential hypertension in individuals of Indo-Aryan ancestry in Northern India

Indian Heart J. 2014 Jul-Aug;66(4):397-400. doi: 10.1016/j.ihj.2014.05.017. Epub 2014 Jun 23.

Abstract

Background: The T594M variant of the β-subunit of the sodium epithelial channel (ENaC) gene may contribute to hypertension in individuals of Indo-Aryan origin.

Methods: Present study was performed to assess the role of the ENaC gene variant as an independent risk factor for hypertension in subjects of Indo-Aryan ancestry. A total of 150 patients of recently detected essential hypertension and 150 matched controls were genotyped for the T594M polymorphism of the ENaC gene by PCR-RFLP method.

Results: β-T594M mutation was found to be non-polymorphic. There was major genotype call in both the groups i.e. cases and controls. Other phenotypic parameters like age, sex and body mass index were also similar among hypertensive patients and controls (P > 0.05). Hypertensive patients had significantly higher total cholesterol and triglycerides compared with controls (P < 0.0001).

Conclusion: These results do not suggest an important role for the T594M variant of the ENaC gene contributing to either the development or severity of hypertension in subjects of Indo-Aryan ancestry.

Keywords: Association study; Essential hypertension; Polymorphism; Sodium epithelial channel.

MeSH terms

  • Adult
  • Case-Control Studies
  • Epithelial Sodium Channels / genetics*
  • Essential Hypertension
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypertension / ethnology
  • Hypertension / genetics*
  • India
  • Lipids / blood
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Pilot Projects
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Risk Factors

Substances

  • Epithelial Sodium Channels
  • Lipids