Killer cell immunoglobulin-like receptor genotypes in Behçet's disease patients: any role for the 3DP1*001/002 pseudogene?

Genet Test Mol Biomarkers. 2009 Jun;13(3):319-24. doi: 10.1089/gtmb.2008.0108.


Aims: Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the second report on its distribution among patients with Behçet's disease (BD). We studied 43 unrelated Lebanese Behçet's patients, had their DNA typed using sequence-specific primer technique for the presence of 16 KIR genes and pseudogenes loci, and compared them to the general Lebanese population.

Results: In addition to sharing common features with the general population, the AA genotype was still the most frequent--however, with five new KIR profiles identified. There was no statistically significant distribution of the different KIR genes between the cases (BD patients) and controls (Lebanese population); however, KIR3DP1*001/002 was found to be significantly different between the BD patients and the Lebanese population, but this significance was lost after correction for all KIR loci.

Conclusion: The results lead to an interesting future research question of whether or not KIR genotype is involved in the predisposition to or pathogenesis of BD especially that a pseudogene is controversially in question. This is the second report that describes the KIR genotypic profile in such an important clinical disease but the first to shed a light on the possible role of a pseudogene.

MeSH terms

  • Behcet Syndrome / genetics*
  • Case-Control Studies
  • Gene Frequency
  • Genotype
  • Haplotypes
  • Humans
  • Killer Cells, Natural / immunology
  • Lebanon
  • Pseudogenes*
  • Receptors, KIR / genetics*


  • Receptors, KIR