A CETP polymorphism improves the diagnostic power of clinical examination in patients with cardiovascular disease

Priska Erzberger1, Marie-Theres Gombert, Marcus Mutschelknauss

  • 1University Department of Medicine, Kantonsspital Bruderholz, Bruderholz, Switzerland.

Insights

Identifying specific genetic markers, like CETPrs708272, can significantly improve the prediction of active atherosclerosis. This single nucleotide polymorphism (SNP) enhances the accuracy of clinical assessments for cardiovascular events.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Atherosclerosis Research

Background:

  • Atherosclerosis leads to severe complications like myocardial infarction and stroke, necessitating improved risk prediction.
  • Current clinical methods for identifying patients at high risk for complicated atherosclerosis require enhancement.

Purpose of the Study:

  • To investigate the utility of molecular tests, specifically single nucleotide polymorphisms (SNPs), in improving the early identification of patients with active atherosclerosis.
  • To assess whether common SNPs can enhance the predictive power of clinical phenotyping for cardiovascular events.

Main Methods:

  • A cohort of 269 patients was analyzed, with 57 individuals having a history of cardiovascular events and 57 matched controls without events.
  • Nine common SNPs associated with cardiovascular disease were tested for their association with cardiovascular events.
  • The predictive value of clinical examination alone and in combination with the CETPrs708272 polymorphism was evaluated using receiver operating characteristic (ROC) curves.

Main Results:

  • One common SNP, CETPrs708272, was found to be significantly associated with cardiovascular events (p = 0.02).
  • The inclusion of CETPrs708272 improved the area under the ROC curve from 0.627 (clinical examination alone) to 0.672 (p = 0.002).
  • This suggests that the allele number for CETPrs708272 enhances the discrimination between active and inactive atherosclerosis.

Conclusions:

  • Common single nucleotide polymorphisms (SNPs) with a significant impact on individual cardiovascular risk, such as CETPrs708272, can aid in predicting an active, symptomatic course of atherosclerosis.
  • Molecular testing for specific SNPs may offer a valuable adjunct to clinical assessment for refining cardiovascular risk prediction.
Abstract

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