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Review
. 2006 Nov 28;12(44):7097-103.
doi: 10.3748/wjg.v12.i44.7097.

Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease--Are we there yet?

Graham Radford-Smith  1 , Nirmala Pandeya
Affiliations
Review

Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease--Are we there yet?

Graham Radford-Smith et al. World J Gastroenterol. .

Abstract

There have been multiple NOD2/CARD15 genotype-phenotype analyses undertaken in patients with Crohn's disease since the gene's discovery in 2001. This review focuses on the major published series based upon their size and on the presence of specific clinical and genetic information provided in the published material from 2001 to 2005. Twelve studies provided raw data to carry out comparisons of disease location while ten studies included analysis of NOD2/CARD15 genotypes. NOD2/CARD15 variant frequency in ileal disease did not differ significantly among studies, whereas a comparison of disease location demonstrated highly significant differences among studies. Meta-analysis confirmed significant associations between NOD2/CARD15 variants and both ileal and ileocolonic disease locations, and with both stricturing and penetrating forms of disease behavior. This review underlines the significant phenotypic differences that exist among populations, including similar ethnic groups, and has demonstrated the need for further studies of patients with long-term "inflammatory" Crohn's disease.

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Figures

Figure 1
Figure 1
Meta-analysis comparing odds of having a NOD2 variant (SNPs 8,12 and/or 13) among Ileal versus Colonic CD patients in 10 studies. Pooled estimate = 2.50 (95% CI 1.97-3.25), P < 0.0001), test of heterogeneity among studies, P = 0.49.
Figure 2
Figure 2
Meta-analysis comparing odds of having a NOD2 variant among Ileocolonic versus Colonic CD patients in 10 studies. Pooled estimate = 2.13 (95% CI 1.7-2.7), P < 0.0001, test of heterogeneity among studies, P = 0.927.
Figure 3
Figure 3
Meta-analysis comparing odds of having a NOD2 variant among Stricturing versus Inflammatory CD patients in nine studies. Pooled estimate = 2.06 (95% CI 1.42-2.98), P < 0.0001, test of heterogeneity among studies, P = 0.02.
Figure 4
Figure 4
Meta-analysis comparing odds of having a NOD2 variant among Penetrating versus Inflammatory CD patients in nine studies. Pooled estimate = 1.47 (95% CI 1.19-1.82), P < 0.0001, test of heterogeneity among studies, P = 0.15.
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References

    1. Hugot JP, Laurent-Puig P, Gower-Rousseau C, Olson JM, Lee JC, Beaugerie L, Naom I, Dupas JL, Van Gossum A, Orholm M, et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature. 1996;379:821–823. - PubMed
    1. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cézard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599–603. - PubMed
    1. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603–606. - PubMed
    1. Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet. 2004;36:471–475. - PubMed
    1. Stoll M, Corneliussen B, Costello CM, Waetzig GH, Mellgard B, Koch WA, Rosenstiel P, Albrecht M, Croucher PJ, Seegert D, et al. Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet. 2004;36:476–480. - PubMed

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