Polymorphic variation in choline transporter gene (CHT1) is associated with early, subclinical measures of carotid atherosclerosis in humans

Int J Cardiovasc Imaging. 2012 Feb;28(2):243-50. doi: 10.1007/s10554-011-9831-4. Epub 2011 Feb 20.


Atherosclerosis is a heritable trait with little known about specific genetic influences on preclinical measures of plaque formation. Based on relations of parasympathetic-cholinergic function to atherosclerosis and to a choline transporter gene [CHT1 (G/T)] polymorphism, we investigated whether the same allelic variant predicts variation in carotid intima-media thickness (IMT) and plaque formation. Carotid IMT and plaque occurrence as well as genotyping for the CHT1 (G/T) variant were measured in a sample (N = 264) of generally healthy adults (age 30-55) of European ancestry. CHT1 GG homozygotes had greater IMT (P < 0.005) and plaque occurrence (P < 0.020) than T allele carriers. This is the first study showing polymorphic variation in the CHT1 gene to predict early, subclinical measures of carotid atherosclerosis which may aid in understanding cholinergic-vagal processes potentially underlying atherosclerotic risk.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Asymptomatic Diseases
  • Carotid Artery Diseases / diagnostic imaging*
  • Carotid Artery Diseases / ethnology
  • Carotid Artery Diseases / genetics*
  • Carotid Artery, Common / diagnostic imaging*
  • Carotid Intima-Media Thickness*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Logistic Models
  • Male
  • Middle Aged
  • Odds Ratio
  • Pennsylvania / epidemiology
  • Phenotype
  • Polymorphism, Genetic*
  • Predictive Value of Tests
  • Risk Assessment
  • Risk Factors
  • Symporters / genetics*
  • White People / genetics


  • SLC5A7 protein, human
  • Symporters