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

doi:10.1093/rheumatology/kep292

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

Medical retina and Uveitis

Research output: Contribution to journal › Article › Research › peer-review

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.

Original language	English
Pages (from-to)	1375-7
Number of pages	3
Journal	Rheumatology
Volume	48
Issue number	11
DOIs	https://doi.org/10.1093/rheumatology/kep292
Publication status	Published - Nov 2009

Keywords

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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Kappen, J. H., Wallace, G. R., Stolk, L., Rivadeneira, F., Uitterlinden, A. G., van Daele, P. L. A., Laman, J. D., Kuijpers, R. W. A. M., Baarsma, G. S., Stanford, M. R., Fortune, F., Madanat, W., van Hagen, P. M., & van Laar, J. A. M. (2009). Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians. Rheumatology, 48(11), 1375-7. https://doi.org/10.1093/rheumatology/kep292

@article{3f83478e368a4dbe89d362e3399ae27a,

title = "Low prevalence of NOD2 SNPs in Beh{\c c}et'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 Beh{\c c}et'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.",

keywords = "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",

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

year = "2009",

month = nov,

doi = "10.1093/rheumatology/kep292",

language = "English",

volume = "48",

pages = "1375--7",

number = "11",

}

Kappen, JH, Wallace, GR, Stolk, L, Rivadeneira, F, Uitterlinden, AG, van Daele, PLA, Laman, JD, Kuijpers, RWAM, Baarsma, GS, Stanford, MR, Fortune, F, Madanat, W, van Hagen, PM & van Laar, JAM 2009, 'Low prevalence of NOD2 SNPs in Behçet's disease suggests protective association in Caucasians', Rheumatology, vol. 48, no. 11, pp. 1375-7. https://doi.org/10.1093/rheumatology/kep292

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 -

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

Abstract

Keywords

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