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Genetic Effects on the Correlation Structure of CVD Risk Factors: Exome-Wide Data From a Ghanaian Population

Nuri Kodaman1, Rafal S Sobota2, Folkert W Asselbergs3

  • 1Vanderbilt Genetics Institute, Vanderbilt University Medical School, Nashville, TN, USA; Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH, USA; Department of Genetics, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA.

Global Heart
|April 15, 2017
PubMed

Insights

Genetic variants significantly alter the relationship between plasminogen activator inhibitor-1 (PAI-1) and cardiovascular disease risk factors. This finding helps explain PAI-1 heritability and identifies potential targets for blood pressure management.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Biochemistry

Background:

  • Plasma plasminogen activator inhibitor-1 (PAI-1) concentration is linked to cardiovascular disease (CVD) risk factors and directly impacts thrombosis.
  • PAI-1's high heritability is not fully explained by genetic association studies, suggesting a role for its relationship with CVD risk factors.
  • Genetic variants may modulate the connection between PAI-1 and CVD risk factors, offering clinical and biological insights.

Purpose of the Study:

  • To investigate genetic variants that modify the correlation between PAI-1 and key CVD risk factors.
  • To explore how genotype influences the relationship between PAI-1 and cardiovascular health.
  • To identify genetic loci affecting the interplay between PAI-1 and risk factors like body mass index, triglycerides, mean arterial pressure, and fasting glucose.

Main Methods:

  • Exome-wide data analysis of 1,032 Ghanaian participants.
  • Testing for heterogeneity of correlation by genotype between PAI-1 and four CVD risk factors.
  • Utilizing univariate and multivariate statistical tests to assess genetic associations.

Main Results:

  • Significant heterogeneities of correlation by genotype were observed between PAI-1 and CVD risk factors, exceeding marginal effects.
  • No evidence of type I inflation was found, supporting the robustness of the findings.
  • The strongest association was the heterogeneity of correlation between PAI-1 and mean arterial pressure at rs10738554, near the SLC24A2 gene.

Conclusions:

  • Genetic variations play a crucial role in modulating the relationship between PAI-1 and cardiovascular risk factors.
  • The identified genetic locus near SLC24A2 is a significant factor in the PAI-1 and mean arterial pressure correlation.
  • These findings contribute to understanding PAI-1 heritability and may inform strategies for managing blood pressure and CVD risk.

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