Low prevalence of NOD2 SNPs in Behcet's disease suggests protective association in Caucasians

JH Kappen, Graham Wallace, L Stolk, F Rivadeneira, AG Uitterlinden, PL van Daele, JD Laman, RW Kuijpers, GS Baarsma, MR Stanford, F Fortune, W Madanat, PM van Hagen, JA van Laar

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Objective. It has been shown previously that three nucleotide-binding oligomerization domain containing 2 (NOD2) variants (Arg702Trp, Gly908Arg and Lue1007fs) are associated with Crohn's disease (CD), a disorder clinically resembling Behçet's disease (BD). We studied the frequency of these variants in BD patients. Methods. DNA samples of 200 BD patients [59 Caucasians, 139 Middle Easterns (MEs) of Arab descent and 2 Asians] and 520 healthy controls (444 Caucasians and 76 MEs) were genotyped using a Taqman assay. Results. Both the Arg702Trp and Leu1007fs (frameshift) variants were significantly less frequently present among BD patients compared with healthy controls (0.5 vs 5.8%; P <1.10(-5) and 0.0 vs 1.8%; P <0.007, respectively). In the Caucasian subpopulation, Arg702Trp was significantly less frequent in the BD group as compared with the controls (P = 0.04); whereas in the ME subpopulation, a trend was observed (P <0.06). Conclusions. Of the three CD-associated single nucleotide polymorphisms, one of the variant NOD2 alleles, was found to be present significantly less in Caucasian BD patients.
Original languageEnglish
Pages (from-to)1375-1377
Number of pages3
Publication statusPublished - 11 Sept 2009


  • Single nucleotide polymorphisms
  • Neutrophil
  • NALP3
  • Peptidoglycan
  • Genetic association
  • Nucleotide-binding oligomerization domain containing 2


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