Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Luciana Rigoli, Claudio Romano, Rosario Alberto Caruso, Maria A Lo Presti, Chiara Di Bella, Vincenzo Procopio, Giuseppina Lo Giudice, Maria Amorini, Giuseppe Costantino, Maria D. Sergi, Caterina Cuppari, Giovanna Elisa Calabrò, Giovanna Elisa Calabro', Romina Gallizzi, Carmelo Damiano Salpietro, Walter Fries

Risultato della ricerca: Contributo in rivistaArticolo in rivista


Aim: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. Methods: Allele and genotype frequencies of NOD2/CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed. Results: NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No significant difference was found between UC patients and control group (P > 0.05). In CD and UC patients, no significant association with G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and L1007finsC mutations were significantly associated with different phenotypes compared to CD wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). Conclusion: These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/CARD15, but not TLR4 SNPs, are associated with increased risk of CD. © 2008 The WJG Press. All rights reserved.
Lingua originaleEnglish
pagine (da-a)4454-4461
Numero di pagine8
RivistaWorld Journal of Gastroenterology
Stato di pubblicazionePubblicato - 2008


  • Adult
  • Case-Control Studies
  • Colitis, Ulcerative
  • Crohn Disease
  • Crohn's disease
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Inflammatory Bowel Diseases
  • Italy
  • Male
  • Middle Aged
  • NOD2/CARD15 gene
  • Nod2 Signaling Adaptor Protein
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Single nucleotide polymorphisms
  • Toll-Like Receptor 4
  • Toll-like receptor 4 gene
  • Ulcerative colitis


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