Toll-like receptor 4 gene Asp299Gly polymorphism is associated with reductions in vascular inflammation, angiographic coronary artery disease, and clinical diabetes

Am Heart J. 2004 Dec;148(6):1034-40. doi: 10.1016/j.ahj.2004.05.049.

Abstract

Background: Coronary artery disease (CAD) and, increasingly, diabetes are recognized as having an inflammatory basis. Membrane toll-like receptors (TLRs) activate signaling pathways that up-regulate inflammation. We evaluated whether the Asp299Gly polymorphism in the TLR4 gene, which impairs inflammatory responses, is associated with reduced vascular inflammation (assessed by C-reactive protein [CRP]) and a decreased risk for CAD and diabetes.

Methods: 1894 patients without acute myocardial infarction undergoing coronary angiography were studied. Genotyping was performed by real-time polymerase chain reaction. CAD was defined as >or=70% stenosis. Diabetes was diagnosed by patients' referring physicians. CRP was measured by fluorescence polarization immunoassay. Regression analyses adjusted for traditional cardiac risk factors.

Results: Patients averaged 64 +/- 11 years of age, and 69% were male. Asp299Gly genotype frequencies were: AA = 0.911 (n = 1725), AG = 0.086 (n = 164), and GG = 0.003 (n = 5), in keeping with Hardy-Weinberg equilibrium. CRP was lower among G-allele carriers (median = 1.11 mg/dL) than wild-type (AA) subjects (1.23 mg/dL, adjusted P = .044). G-allele carriers also had a lower prevalence of CAD (65% vs. 73%, OR = 0.67, CI = 0.46-0.99, adjusted P = .048) and diabetes (11% vs. 18%, OR = 0.63, CI = 0.42-0.95, adjusted P = .029), which persisted in multivariate logistic regression analyses. 299Gly carriage did not affect clinical outcomes nor interact with statin therapy.

Conclusions: The TLR4 299Gly allele was associated with reduced CRP levels and, in parallel, a decreased risk of angiographic CAD and clinical diabetes. These findings suggest that down-regulation of innate immune responsiveness could beneficially modify CAD and diabetes risk and might provide a novel basis for genetic risk stratification and therapeutic targeting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • C-Reactive Protein / analysis*
  • Coronary Angiography
  • Coronary Disease / blood
  • Coronary Disease / genetics*
  • Diabetes Mellitus / blood
  • Diabetes Mellitus / genetics*
  • Female
  • Genetic Markers
  • Genotype
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Inflammation / genetics*
  • Logistic Models
  • Male
  • Membrane Glycoproteins / genetics*
  • Middle Aged
  • Myocardial Infarction / genetics
  • Myocardial Infarction / mortality
  • Myocardial Infarction / prevention & control
  • Polymorphism, Genetic
  • Receptors, Cell Surface / genetics*
  • Risk Factors
  • Toll-Like Receptor 4
  • Toll-Like Receptors

Substances

  • Genetic Markers
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Membrane Glycoproteins
  • Receptors, Cell Surface
  • TLR4 protein, human
  • Toll-Like Receptor 4
  • Toll-Like Receptors
  • C-Reactive Protein