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Coronary heart disease in systemic lupus erythematosus is associated with interferon regulatory factor-8 gene

Dag Leonard1, Elisabet Svenungsson, Johanna K Sandling

  • 1Section of Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden. dag.leonard@medsci.uu.se

Circulation. Cardiovascular Genetics
|May 11, 2013
PubMed

Insights

Genetic factors significantly influence coronary heart disease (CHD) in systemic lupus erythematosus (SLE). The interferon regulatory factor-8 (IRF8) gene shows a strong association with increased CHD risk in SLE patients.

Area of Science:

  • Genetics
  • Cardiology
  • Immunology

Background:

  • Systemic lupus erythematosus (SLE) patients face higher risks of coronary heart disease (CHD) morbidity and mortality.
  • Investigating genetic predispositions for CHD in SLE is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To identify genetic factors associated with coronary heart disease (CHD) in patients with systemic lupus erythematosus (SLE).
  • To determine if specific genetic variations influence CHD risk beyond traditional risk factors.

Main Methods:

  • Genotyping of single-nucleotide polymorphisms (SNPs) in two SLE populations using a custom Illumina Array.
  • Comparing allele frequencies between SLE patients with and without CHD.
  • Utilizing electrophoretic mobility shift assays and flow cytometry to investigate functional effects.

Main Results:

  • Sixty-one SNPs were associated with CHD in SLE patients (P<0.01), with strongest links to the interferon regulatory factor-8 (IRF8) gene.
  • Two IRF8 SNPs (rs925994, rs10514610) showed consistent association across both populations.
  • The IRF8 risk allele correlated with carotid plaques, increased intima-media thickness, and reduced B cell frequency.

Conclusions:

  • A significant genetic component contributes to CHD in systemic lupus erythematosus.
  • The interferon regulatory factor-8 (IRF8) gene represents a strong susceptibility locus for CHD in SLE.
Abstract

Keywords:
cardiovascular diseasecarotid intima-media thicknesscoronary diseasegenesinterferon regulatory factor-8lupus erythematosus, systemicmyocardial ischemia

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