Association of epithelial sodium channel β-subunit common polymorphism with essential hypertension families in a Chinese population

Cell Biochem Biophys. 2014 Nov;70(2):1277-82. doi: 10.1007/s12013-014-0051-0.

Abstract

The purpose of this study was to investigate whether common polymorphisms in the C-terminus of SCNN1B gene encoding the β-subunit of epithelial sodium channel are associated with essential hypertension (EH) in Chinese hypertensive families. A total of 433 subjects from 102 EH families were recruited. Biochemical and anthropometric indices and systematic screening of the C-terminus of SCNN1B were performed. Four single nucleotide polymorphisms (SNPs) were found. Homozygotes for the common A allele at rs3743966 had on average a 12.06 mmHg higher SBP and a 7.43 mmHg higher DBP than homozygotes for the rarer T allele. AA + AT genotype of rs3743966 was also found to maybe a risk factor of hypertension by logistic regression and transmission/disequilibrium test. AA + AT genotype of rs3743966 maybe a risk factor of EH. In conclusion, there was a significant association between the rs3743966 SNP in intron 12 and EH in Chinese hypertensive families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Blood Pressure / genetics
  • Epithelial Sodium Channels / genetics*
  • Essential Hypertension
  • Exons / genetics
  • Female
  • Genotype
  • Humans
  • Hypertension / genetics*
  • Hypertension / physiopathology
  • Introns / genetics
  • Male
  • Middle Aged
  • Pedigree*
  • Polymorphism, Single Nucleotide*
  • Protein Subunits / genetics*

Substances

  • Epithelial Sodium Channels
  • Protein Subunits