The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese

Ann Hum Genet. 2015 Jan;79(1):28-36. doi: 10.1111/ahg.12085. Epub 2014 Nov 13.


Nax , an α-subunit of the sodium channel encoded by the SCN7A gene, has been deemed to be a sensor of the concentration of sodium in the brain and may be involved in salt intake behavior. We inferred that Nax /SCN7A may participate in the regulation of blood pressure and the pathogenesis of essential hypertension (EH). The present case-control study involving 615 hypertensives and 617 normotensives was performed to investigate the association between SCN7A polymorphisms and EH in the Northern Han Chinese population. The three common single nucleotide polymorphisms (SNPs) (rs3791251, rs6738031, rs7565062) in the exons of SCN7A were genotyped with the TaqMan assay. Significant association between SNP rs7565062 and EH was found under the addictive and dominant genetic models (P = 0.024, OR = 1.283, 95%CI [1.033-1.592]; P = 0.013, OR = 1.203, 95%CI [1.040-1.392]; respectively). The three SNPs were in close pair-wise linkage disequilibrium with each other and the haplotype analyses indicated that haplotype G-A-T was significantly associated with increased risk of EH (P = 0.023, OR = 1.290). In conclusion, our data showed that SNP rs7565062 of SCN7A was significantly associated with EH and the allele T of rs7565062 or the related haplotype G-A-T will be a genetic risk factor for EH in the Northern Han Chinese population.

Keywords: SCN7A; association; case-control; essential hypertension; polymorphism; sodium channel; sodium intake.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • China
  • DNA Mutational Analysis
  • Essential Hypertension
  • Female
  • Genetic Association Studies
  • Genotype
  • Haplotypes
  • Humans
  • Hypertension / genetics*
  • Linkage Disequilibrium
  • Male
  • Middle Aged
  • Models, Genetic
  • Polymorphism, Single Nucleotide*
  • Voltage-Gated Sodium Channels / genetics*


  • SCN7A protein, human
  • Voltage-Gated Sodium Channels