NOD2/CARD15 gene polymorphism in patients with inflammatory bowel disease: Is Hungary different?

Büning, Carsten

doi:10.3748/wjg.v11.i3.407

Cited by 29 publications

(27 citation statements)

References 24 publications

(42 reference statements)

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“…Allele frequency in patients with CD was 15 % compared to 0.83 % in controls. This frequency was similar to that reported in Italians [15] Hungarians [16] and in Croatians [17] CD patients: 10 % 10.8 % and 11.76 % respectively. Lower frequency was reported in Finnish [18] and in Chinese [19] populations 4.8 % and 3.3 % respectively.…”

Section: Frequencies Of Card15 Gene 3020 Insc Mutation and Genotype-psupporting

confidence: 73%

3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population

et al. 2009

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Section: Frequencies Of Card15 Gene 3020 Insc Mutation and Genotype-psupporting

confidence: 73%

3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population

et al. 2009

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“…Need for surgery may be considered a signal of severity, and in this respect our results support the observations that the CARD15 gene plays a role in susceptibility and in the severity of disease as previously reported (21)(22)(23)(24)(25).…”

Section: Discussionsupporting

confidence: 91%

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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“…The effect of the CARD15 status on the clinical course of CD was not the focus of the current study, but observations in our three cohorts have shown that the c.3020insC variant is a risk factor for stenotic disease behavior and increases the need for surgical interventions in CD. [6][7][8] Overall, the clinical presentation of IBD was similar among all three populations in terms of age, gender, familial disease, smoking, disease localization, behavior, and surgery.…”

Section: Discussionmentioning

confidence: 81%

“…6 Genotyping for CARD15 variants in CD patients from Nijmegen has been described elsewhere. 7 The analysis stratifies for these three common CARD15 variants.…”

Section: Genotyping For Card15 Variantsmentioning

confidence: 99%

A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn’s disease

Büning

Durmus

Molnár

et al. 2007

Journal of Crohn's and Colitis

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Background and aims: A recent study reported that a nonsynonymous SNP rs2241880 (c.898A >G, p.Thr300Ala) within ATG16L1 confers susceptibility to Crohn's disease (CD). We analyzed ATG16L1 c.898A > G in three independent European inflammatory bowel disease (IBD) cohorts from Germany, Hungary and the Netherlands. Methods IntroductionCrohn's disease (CD) is thought to result from an aberrant immune response towards bacteria of fecal origin in a genetically susceptible host. The characterization of the genetic background in CD is emerging rapidly, especially by genome-wide association studies. Using this approach, a nonsynonymous SNP (rs2241880) in the ATG16L1 gene leading to a threonine by alanine exchange in codon 300 (c.898A > G, p.Thr300Ala) was recently associated with CD, but not with ulcerative colitis (UC). 1 ATG16L1 encodes a protein involved in processing of intracellular bacteria, and mouse orthologue localizes to the autophagic isolation membrane during autophagosome formation.2 Although the precise function of human ATG16L1 is currently unknown, an aberrant ATG16L1 protein might result in defective bacterial detection and thus play a role in CD pathogenesis. This is supported by the function of the most established genetic risk factor for CD, CARD15, which constitutes an intracellular receptor for bacterial recognition.3 Interestingly, the pioneer study detected statistical interactions between ATG16L1 and CARD15.1.A disturbed epithelial barrier is suggested to be crucially involved in development and course of CD. This barrier dysfunction is believed to be genetically determined. We have recently reported that the c.3020insC CARD15 variant might only explain part of this genetic basis 4 and thus other genetic variants must be involved.We formulated the following aims of our study: 2. Materials and methods PatientsPatients with the diagnosis of CD or UC were included in the study based upon clinical, endoscopic, radiological, and histological findings according to standardized criteria. 5 All studies were approved by the responsible ethic committees of all three institutions and informed consent was obtained from each participant.IBD patients were recruited from the following tertiary referral centers: In total, 489 Caucasian IBD patients (310 with CD and 179 with UC) were recruited from the Charité Berlin (Campus Mitte and Campus Virchow). In addition, 147 patients with CD and 117 patients with UC from the 1st Department of Medicine, Faculty of Medicine, University of Szeged, Hungary, were included. Among the 147 CD patients, 137 were Caucasians and 10 patients were from the Roma minority (Gypsy).Lastly, we enrolled 157 CD patients from the Department of Gastroenterology and Hepatology at the Radboud University Nijmegen Medical Center, the Netherlands.Unrelated and healthy subjects from Germany (n = 285), Hungary (n = 207) and the Netherlands (n = 215) served as controls. Clinical characteristics of IBD patientsClinical data of IBD patients were obtained through retrospective collection from t...

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NOD2/CARD15 gene polymorphism in patients with inflammatory bowel disease: Is Hungary different?

Abstract: AIM:To analyse the impact of NOD2

Cited by 29 publications

References 24 publications

3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population

3020insC insertion in NOD2/CARD15 gene, a prevalent variant associated with anti-Saccharomyces cerevisiae antibodies and ileal location of Crohn’s disease in Tunisian population

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

A study in three European IBD cohorts confirms that the ATG16L1 c.898A>G (p.Thr300Ala) variant is a susceptibility factor for Crohn’s disease

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