Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians.
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.
Kappen
Jasper H
JH
Department of Internal Medicine, Section of Clinical Immunology, Erasmus University Hospital, Rotterdam, The Netherlands.
Wallace
Graham R
GR
Stolk
Lisette
L
Rivadeneira
Fernando
F
Uitterlinden
Andre G
AG
van Daele
Paul L A
PL
Laman
Jon D
JD
Kuijpers
Robert W A M
RW
Baarsma
Goitze Seerp
GS
Stanford
Miles R
MR
Fortune
Farida
F
Madanat
Wafa
W
van Hagen
Petrus Martin
PM
van Laar
Jan A M
JA
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
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein