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A functional variant in the CARD4 gene and risk of premature coronary heart disease

N E El Mokhtari1, S J Ott, A Nebel

  • 1Department of Cardiology, University Hospital Schleswig-Holstein, UKSH Campus Kiel, Kiel, Germany.

International Journal of Immunogenetics
|August 9, 2006
PubMed

Insights

This study investigated CARD4 gene variants in coronary heart disease (CHD). The analyzed CARD4 mutations were not found to be significantly associated with CHD, suggesting they do not play a major role in its development.

Area of Science:

  • Immunology
  • Genetics
  • Cardiovascular Disease

Background:

  • Innate immunity and pattern-recognition receptors (PRRs) are implicated in atherosclerosis pathogenesis.
  • Toll-like receptor 4 (TLR4) is known to be involved in atherosclerosis.
  • CARD4, encoding nucleotide-binding oligomerization domain 1 (NOD1), is a PRR associated with barrier function and inflammatory diseases.

Purpose of the Study:

  • To investigate the association of a functional CARD4 gene variant (ND(1)+32656) and adjacent variants (rs2075822, rs2907748) with early-onset coronary heart disease (CHD).

Main Methods:

  • Analysis of genotype and haplotype frequencies of CARD4 variants in 1440 German individuals (CHD patients and healthy controls).

Main Results:

  • No significant association was found between the analyzed CARD4 variants and coronary heart disease.
  • Genotype and haplotype data did not provide evidence for a link between these CARD4 mutations and CHD.

Conclusions:

  • The investigated CARD4 gene mutations do not appear to be a major factor in the etiology of coronary heart disease.
  • Further research may be needed to explore other genetic or environmental factors in CHD pathogenesis.

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