TY - JOUR
T1 - Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians
AU - Kappen, Jasper H
AU - Wallace, Graham R
AU - Stolk, Lisette
AU - Rivadeneira, Fernando
AU - Uitterlinden, Andre G
AU - van Daele, Paul L A
AU - Laman, Jon D
AU - Kuijpers, Robert W A M
AU - Baarsma, Goitze Seerp
AU - Stanford, Miles R
AU - Fortune, Farida
AU - Madanat, Wafa
AU - van Hagen, Petrus Martin
AU - van Laar, Jan A M
PY - 2009/11
Y1 - 2009/11
N2 - 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.
AB - 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.
KW - Aged
KW - Behcet Syndrome/genetics
KW - Cohort Studies
KW - Gene Frequency
KW - Genetic Predisposition to Disease
KW - Genotype
KW - Heterozygote
KW - Humans
KW - Middle Aged
KW - Nod2 Signaling Adaptor Protein/genetics
KW - Polymorphism, Single Nucleotide
KW - White People/genetics
U2 - 10.1093/rheumatology/kep292
DO - 10.1093/rheumatology/kep292
M3 - Article
C2 - 19748964
SN - 1462-0324
VL - 48
SP - 1375
EP - 1377
JO - Rheumatology
JF - Rheumatology
IS - 11
ER -