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

Jasper H Kappen, Graham R Wallace, Lisette Stolk, Fernando Rivadeneira, Andre G Uitterlinden, Paul L A van Daele, Jon D Laman, Robert W A M Kuijpers, Goitze Seerp Baarsma, Miles R Stanford, Farida Fortune, Wafa Madanat, Petrus Martin van Hagen, Jan A M van Laar

Research output: Contribution to journalArticleResearchpeer-review


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)1375-7
Number of pages3
JournalRheumatology (Oxford, England)
Issue number11
Publication statusPublished - Nov 2009


  • Aged
  • Behcet Syndrome/genetics
  • Cohort Studies
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Heterozygote
  • Humans
  • Middle Aged
  • Nod2 Signaling Adaptor Protein/genetics
  • Polymorphism, Single Nucleotide
  • White People/genetics


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