The molecular classification of the clinical manifestations of Crohn's disease

Ahmad, Tariq; Armuzzi, Alessandro; Bunce, Mike; Mulcahy-Hawes, K.; Marshall, Sara E.; Orchard, Timothy R.; Crawshaw, Jonathan; Large, Oliver; Silva, Arjuna De; Cook, Julia; Barnardo, Martin; Cullen, Sue; Welsh, Ken I.; Jewell, D P

doi:10.1053/gast.2002.32413

Cited by 538 publications

(468 citation statements)

References 54 publications

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“…The PAR%, an indication of the contribution of a mutation to the disease in a certain community, is an illustration of the observed differences. The PAR% in the present study is 11.0% compared to 27% in Oxford 11 and Los Angeles 8 and 33.2% in the initial study of Hugot et al 7 This is also lower than the 12.9% from the data of Helio et al 22 and thus the lowest reported figure from Europe or North America. We have gone on to compare these data with a cohort of Irish patients who may share common ancestry.…”

Section: Discussioncontrasting

confidence: 65%

“…This demonstrates that the common NOD2/CARD15 variants are significantly less common in Scottish CD than in documented populations from North America (Po0.00001), 8 Europe (Po0.00001) 7 and the United Kingdom (P ¼ 0.0012) 11 (Table 4). When compared with a population from Northern Europe, 22 these differences were not seen.…”

Section: Resultsmentioning

confidence: 88%

“…Lesage et al 12 suggested that patients carrying two variant copies of the CARD15/NOD2 gene are at increased risk of ileal involvement, early age at diagnosis and fibrostenotic behaviour of disease. Ahmad et al, 11 Cuthbert et al, 10 and others 9,19,22,25 have also suggested that carriage of allelic variants is associated with ileal involvement in CD. However, as further data emerge, the primary genotype-phenotype relationship remains controversial and most limited by the quality of phenotypic data.…”

Section: Introductionmentioning

confidence: 94%

“…The contribution of the gene has been studied in many diverse populations, [7][8][9][10][11] with positive associations in up to 50% of CD patients. 12 However, data from Japanese, Korean and African-American individuals have not shown an association, [13][14][15] and there are now clear differences between Ashkenazi Jewish and nonJewish populations.…”

Section: Introductionmentioning

confidence: 99%

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NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

et al. 2004

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Section: Discussioncontrasting

confidence: 65%

Section: Resultsmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

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NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

et al. 2004

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“…Among the UC susceptibility genes, HLA DRB1*0103 and the multidrug resistance gene 1 (MDR1/ABCB1) also contribute to clinical phenotype and natural history, being associated with extensive and severe disease [17,[23][24][25][26][27][28][29][30][31][32][33][34][35][36][37]. In CD, NOD2 gene mutations have repeatedly been shown to be associated with ileal disease, early age of onset, stricturing, and/or penetrating phenotype and increased need for surgery [5,9,10,[38][39][40][41][42][43][44][45][46][47][48][49]. Surprisingly, there are no studies focusing on potential genotype-phenotype associations between NOD2 mutations and UC, perhaps because it is not commonly considered a susceptibility gene for UC [5,10,50].…”

Section: Introductionmentioning

confidence: 99%

NOD2 gene mutations in ulcerative colitis: useless or misunderstood?

Freire

Cardoso

Figueiredo

et al. 2014

Int J Colorectal Dis

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Purpose NOD2 mutations have been linked to an increased risk of Crohn's disease and to some of its phenotypes. The association between NOD2 mutations and susceptibility to ulcerative colitis (UC) remains somewhat controversial and potential correlations between these mutations and UC phenotype have not been studied. Aim To assess whether NOD2 mutations are a risk factor for UC in Portugal and if there are any genotype-phenotype correlations in these patients. Methods The three main NOD2 mutations were searched in 200 patients with UC and in 202 healthy controls. Results NOD2 mutations were present in 28 patients with UC (14.0 %) and in 27 controls (13.4 %) (p=0.853). Mutation carriers were more likely to receive steroids during the first year of disease than non-carriers (54.2 % vs. 29.6 %, p= 0.018) and among these patients the need for intravenous administration was more frequent in those with the R702W polymorphism (90.0 % vs. 45.5 %, p=0.014). In patients with severe colitis admitted for intravenous steroids, a greater proportion of mutation carriers was considered intravenous-steroid refractory and required salvage therapy (90.0 % vs. 38.1 %, p=0.004). Patients with NOD2 mutation were submitted to colectomy more frequently than non-carriers (17.9 % vs. 4.1 %. p=0.015). No correlation with the need for immunosuppressants/immunomodulators was found. Conclusions In the Portuguese population, NOD2 mutations do not increase the risk of UC but are associated with a more aggressive course including greater need of steroids in the first

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Inflammatory Bowel Disease, Genetics of

Satsangi

2007

Encyclopedia of Life Sciences

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Genetic studies of the chronic inflammatory bowel diseases, Crohn disease (CD) and ulcerative colitis (UC), represent a paradigm for complex disease genetics having seen several notable breakthroughs. Indeed, the discovery of NOD2/CARD15 as a CD susceptibility gene in 2001 was the first in a complex genetic disorder. In this review, we detail the genetic epidemiology in inflammatory bowel disease, genome‐wide linkage and association studies, and candidate genes highlighting the insights they have provided into disease pathogenesis and therapeutics.

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The molecular classification of the clinical manifestations of Crohn's disease

Cited by 538 publications

References 54 publications

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

NOD2 gene mutations in ulcerative colitis: useless or misunderstood?

Inflammatory Bowel Disease, Genetics of

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