CARD15 Mutations in Patients With Crohn's Disease in a Homogeneous Spanish Population

Núñez, Concepción; Barreiro, Manuel; Domínguez–Muñoz, J. Enrique; Lorenzo, Aurelio; Peña, A. S.

doi:10.1111/j.1572-0241.2004.04066.x

Cited by 30 publications

(25 citation statements)

References 29 publications

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“…In our cohort of patients we only found this association after combining ileal and ileocolonic patients. This could be the consequence of the low rates of limited ileal CD in our cohort of patients compared to other studies (ranging from 40% to 50% in CD patients) [25,26] . Since location remains relatively stable during the course of the disease [24] , the low rates of ileal CD seen in our patients could be attributable to the impact of interobserver disagreement [30] , variation of disease location among different backgrounds [31] and even differences in diagnostic techniques.…”

Section: Discussionmentioning

confidence: 51%

“…The frequency of NOD2 mutant alleles associated to CD in our cohort of patients was within the European range, but deviated somewhat from populations of nearby geographic regions [25,26] . The frequency of R702W was one of the highest described in Caucasian populations, whereas the frequency of L1007finsC was lower than in other studies [27] .…”

Section: Discussionmentioning

confidence: 94%

“…The presence of R702W showed the strongest risk for CD in our cohort of patients. However, this mutation was not associated to CD in Galician, Finnish or Scottish populations [26] . The mutation with the strongest CD association in several familial and non-familial studies was L1007finsC [14] , but this was not so in our cohort.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Influence of a nucleotide oligomerization domain 1(NOD1)polymorphism andNOD2mutant alleles on Crohn's disease phenotype

Cantó

Ricart²,

Busquets³

et al. 2007

WJG

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variant confirmation were performed by specific amplification and sequencing. RESULTS:The distribution of NOD1 polymorphism in patients was different from controls (P = 0.045) and not altered by existence of NOD2 mutations. In this cohort, 30.92% patients and 6% controls carried at least one NOD2 variant (P < 0.001) with R702W being the most frequent variant. Presence of at least one NOD2 mutation was inversely associated with colon involvement (9.09% with colon vs 36.4% with ileal or ileocolonic involvement, P = 0.04) and indicative of risk of penetrating disease (52.63% with penetrating vs 25.64% with non-penetrating or stricturing behavior, P = 0.02). L1007finsC and double NOD2 mutation conferred the highest risk for severity of disease (26.3% with penetrating disease vs 3.8% with non-penetrating or stricturing behavior presented L1007finsC, P = 0.01 and 21.0% with penetrating disease vs 2.5% with nonpenentrating or stricturing behavior carried double NOD2 mutation, P = 0.007). Exclusion of patients with NOD2mutations from phenotype/NOD1 -genotype analysis revealed higher prevalence of *1*1 genotype in groups of younger age at onset and colonic location. CONCLUSION: T h i s s t u d y s u g g e s t s p o p u l a t i o ndifferences in the inheritance of risk NOD1 polymorphism and NOD2 mutations. Although no interaction between NOD1 -NOD2 was noticed, a relationship between disease location and Nod-like receptor molecules was established.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 94%

See 1 more Smart Citation

Influence of a nucleotide oligomerization domain 1(NOD1)polymorphism andNOD2mutant alleles on Crohn's disease phenotype

Cantó

Ricart²,

Busquets³

et al. 2007

WJG

View full text Add to dashboard Cite

show abstract

“…However, these mutations are not present in all the populations studied so far. Important differences in the frequency of these mutations have been observed according to each population's race and geographic location (4)(5)(6)(7)(8)(9)(10)(11)(12)(13). In most of the studies reported, the presence of CARD15 mutations has been associated with ileal disease, which usually implies a need for surgery with higher frequency.…”

Section: Introductionmentioning

confidence: 99%

Association of NOD2/CARD15 mutations with previous surgical procedures in Crohn's disease

Barreiro

Núñez

Domínguez‐Muñoz

et al. 2005

Rev. esp. enferm. dig.

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Objective: the aim of this study is to assess the importance of NOD2/CARD15 gene mutations as prognostic factors for surgical indications in Crohn's disease.Patients and experimental design: a total of 165 Crohn's disease patients were studied, considering previous surgery related to Crohn´s disease. We analyzed for previous surgery in global procedures as well as separately for the two main surgical indications: ileal resection and fistula treatment. The need for appendectomy was also studied. All patients were genotyped for the three CARD15 mutations, and association studies were developed using Chi-square statistics and Fisher's exact test whenever appropriate.Results: carriers of the G908R or 1007fs mutation needed surgery more frequently, both for ileal resection and fistula repair. In contrast, appendectomy was not associated with CARD15 mutations.Conclusions: as previously reported in this population, the R702W mutation does influence parameters of disease or need of surgery. The need for Crohn's disease-related surgery is higher in carriers of the G908R or 1007fs CARD15 mutation in the Galician population. Nevertheless, the frequency of these mutations does not allow their use to predict the course of disease.

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“…Despite the well-demonstrated and replicated role of CARD15 mutations in the susceptibility for CD in the majority of Caucasian populations [19][20][21][22][23] , no mutations have been found in Asian [24][25][26][27] and in several European populations. In Scotland, Ireland, Galicia, Sweden and Finland the carriership of mutations in the CARD15 gene is less frequent [28][29][30][31][32] . An interesting phenomenon was recently reported in monozygotic twins.…”

Section: Introductionmentioning

confidence: 99%

Contribution of genetics to a new vision in the understanding of inflammatory bowel disease

Peña¹

2006

WJG

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Inflammatory bowel diseases (IBD), such as Crohn' s d i s e a s e ( C D ) a n d u l c e ra t i v e c o l i t i s ( U C ) , a r e chronic inflammatory autoimmune conditions of the gastrointestinal tract. Other organs, such as the eyes, skin and articulations, are often affected and IBD may be accompanied by other diseases of autoimmune origin. There is no single etiological factor responsible for the onset of IBD. Recent advances in genetics and in the molecular mechanisms of the proteins coded by these genes have given rise to a new vision in understanding these complex diseases. Activation of specific genes that affect antigen presentation and the handling of cells by innate immunity may lead to autoimmunity with the consequent activation of the major histocompatibility complex (MHC) and multiple cytokines involved in the regulation of acquired immunity. In this review IBD is described as a constellation of diseases that can best be classified as barrier diseases. This vision, developed by Kiel in Germany, includes the idea that changes in our environment due to the westernization of civilization have not been met with adaptation of the innate immune system, and this has given rise to autoimmune diseases. These diseases affect 1-5 of 1000 individuals and represent a major burden on the national health systems of many countries on different continents. On a world scale, a major challenge is to generate interventions to prevent the development of these diseases in Asia, Latin America and Africa.

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CARD15 Mutations in Patients With Crohn's Disease in a Homogeneous Spanish Population

Abstract: The CARD15 variants G908R and 1007fs, but not R702W, are associated with susceptibility to Crohn's disease in Galicia. Interestingly, the frequency of these mutations appears to be lower than in other Caucasian populations studied so far.

Cited by 30 publications

References 29 publications

Influence of a nucleotide oligomerization domain 1(NOD1)polymorphism andNOD2mutant alleles on Crohn's disease phenotype

Influence of a nucleotide oligomerization domain 1(NOD1)polymorphism andNOD2mutant alleles on Crohn's disease phenotype

Association of NOD2/CARD15 mutations with previous surgical procedures in Crohn's disease

Contribution of genetics to a new vision in the understanding of inflammatory bowel disease

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