Progress in searching for susceptibility gene for inflammatory bowel disease by positional cloning

Table 2 Data of association analysis for NOD2

Ref year author	Subject	Main conclusion
R65, 2001	Europe CD, UC	A. Find P241S, R432R, R675W, G881R, IVS8-133delAinSCT, 980fs etc.31 variants
Hugot, JP		B. R675W, G881R, 980fs with CD, not with UC
		C. CD-GRR 3.0 at SHEM, 38.0 at HOM, 44.0 at CHEM
R66, 2001	American CD	A. 3020insC with CD
Ogura Y		B. CD-GRR 1.5 at SHEM, 17.6 at HOM
R67, 2001	German, English CD	A. 3020insC with CD, not with UC
Hampe J	UC	B. CD-GRR 2.6 at SHEM, 42.1 at HOM
R68, 2002	Europe CD, UC	A. Find 67 sequence variants, 9 of which gene frequency > 5%
Lesage S		B. R702W, G908R, 3020insC with CD, not with UC
		C. Support gene-dosage effect
R69, 2002	Europe CD, UC	A. R702W, G908R, 3020insC with CD, especially ileum CD, not with UC
Cuthbert AP		B. P628S linkage disequilibrium with the other three mutations
		C. CD-GRR 3.0 at SHEM, > 22.0 at HOM or at CHEM
		D. Mutation frequency: familial CD > sporadic CD
R70, 2002	Dutch CD	A. 3020insC with CD, G2722C not with CD
Murillo L		B. No association with clinical phenotype
R71, 2002	German, Norwegian	A. R675W, G881R, 980fs with CD
Hampe J	CD	B. Especially with ileum CD
R72, 2002	Canadian CD	A. R702W, G908R, 1007fs with CD, especially ileum CD
Vermeire S		B. No difference between familial CD and sporadic CD
R73, 2002	German UC, CD	A. 3020insC with CD, not with UC
Radlmayr M		B. Association with fistula, fibrostenosis, ileocecum resection
R74, 2002	Japanese CD, UC	A. R675W, G881R, 3020insC not with CD or UC
Inoue N
R75, 2002	Europe CD	A. R675W, G881R, 3020insC with CD
Vermeire S		B. Not with effect of Infliximb
R76, 2002	American CD	A. R702W, G908R, 1007fs with CD
Abreu MT		B. With fibrostenosis
R77, 2002	English CD	A. R702W, G908R, 1007fs with CD, especially ileum CD
Ahmad T		B. 3020insC with early onset of CD
		C. CD-GRR 2.4 at SHEM, 9.8 at HOM, 29.3 at CHEM
R49, 2002	Europe CD	A. R702W, 1007fs with CD, linkage disequilibrium with P628S
Van heel DA		B. Support gene-dosage effect

Note: CD = Crohn disease; UC = ulcerative colitis; CD-GRR = CD-genotype relative risk; SHEM = simple heterogeneous mutation; HOM = Homozygous mutation; CHEM = complex heterogeneous mutation; P value is uniformly set at ≤ 0.05; Nomenclatures were not uniform among the studies, R675W = R702W, G881R = G908R, 1007fs = 980fs = 3020insC.