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Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis

Arne S Schaefer1, Gesa M Richter, Birte Groessner-Schreiber

  • 1Institute for Clinical Molecular Biology, University Medical Center Schleswig-Holstein, Kiel, Germany. a.schaefer@ikmb.uni-kiel.de

Plos Genetics
|February 14, 2009
PubMed

Insights

Coronary heart disease (CHD) and periodontitis share a genetic link on chromosome 9p21.3, specifically involving the ANRIL gene. This discovery offers new insights into the shared inflammatory pathways of these common diseases.

Area of Science:

  • Genetics
  • Cardiology
  • Periodontology

Background:

  • Coronary heart disease (CHD) and periodontitis exhibit a bidirectional epidemiological relationship.
  • Both conditions share common risk factors and are characterized by chronic inflammation.

Purpose of the Study:

  • To identify shared genetic susceptibility loci for CHD and periodontitis.
  • To investigate the role of chromosome 9p21.3 in the pathogenesis of these diseases.

Main Methods:

  • Candidate-gene association study.
  • Analysis of linkage disequilibrium regions on human chromosome 9p21.3.
  • Genotyping of single nucleotide polymorphism (SNP) rs1333048.

Main Results:

  • Confirmed association of chromosome 9p21.3 loci with CHD.
  • Demonstrated a strong association of these loci with aggressive periodontitis risk.
  • Identified the ANRIL gene as a potential shared susceptibility factor, independent of diabetes-associated variants.

Conclusions:

  • CHD and periodontitis are genetically linked through shared susceptibility loci, particularly within the ANRIL gene.
  • The identified genetic locus may play a role in the shared inflammatory mechanisms of CHD and periodontitis.
  • Further research into ANRIL transcript variants could illuminate pathogenic pathways and inform therapeutic strategies.

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