title: Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Section of Clinical Immunology, Erasmus University Hospital, Rotterdam, The Netherlands.
authors.forename: Jasper H
authors.initials: JH
authors.lastname: Kappen
authors.forename: Graham R
authors.initials: GR
authors.lastname: Wallace
authors.forename: Lisette
authors.initials: L
authors.lastname: Stolk
authors.forename: Fernando
authors.initials: F
authors.lastname: Rivadeneira
authors.forename: Andre G
authors.initials: AG
authors.lastname: Uitterlinden
authors.forename: Paul L A
authors.initials: PL
authors.lastname: van Daele
authors.forename: Jon D
authors.initials: JD
authors.lastname: Laman
authors.forename: Robert W A M
authors.initials: RW
authors.lastname: Kuijpers
authors.forename: Goitze Seerp
authors.initials: GS
authors.lastname: Baarsma
authors.forename: Miles R
authors.initials: MR
authors.lastname: Stanford
authors.forename: Farida
authors.initials: F
authors.lastname: Fortune
authors.forename: Wafa
authors.initials: W
authors.lastname: Madanat
authors.forename: Petrus Martin
authors.initials: PM
authors.lastname: van Hagen
authors.forename: Jan A M
authors.initials: JA
authors.lastname: van Laar
mesh_terms: D000368:Aged; D001528:Behcet Syndrome / Q000235:genetics* / Q000517:prevention & control; D015331:Cohort Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein