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.
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 BDpatients. METHODS: DNA samples of 200 BDpatients [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 BDpatients 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 BDpatients.
Authors: Jasper H Kappen; Carolina Medina-Gomez; P Martin van Hagen; Lisette Stolk; Karol Estrada; Fernando Rivadeneira; Andre G Uitterlinden; Miles R Stanford; Eldat Ben-Chetrit; Graham R Wallace; Merih Soylu; Jan A M van Laar Journal: PLoS One Date: 2015-03-23 Impact factor: 3.240
Authors: R A M Quax; J A M van Laar; R van Heerebeek; K Greiner; E Ben-Chetrit; M Stanford; G R Wallace; F Fortune; M Ghabra; M Soylu; J M W Hazes; S W J Lamberts; J H Kappen; P M van Hagen; J W Koper; R A Feelders Journal: Endocr Connect Date: 2012-10-24 Impact factor: 3.335