Search results for "NOD2"

Incidence of Crohn's disease and CARD15 mutation in a small township in Sicily.

2006

Background: The incidence of Crohn's disease (CD) has been shown to be lower in Southern than in Northern Europe. Data on the frequency of the NOD2/CARD15 mutations for Mediterranean area are very scant. Aim: To determine the incidence of CD from 1979 to 2002 in a township in Sicily together with the allele frequency of NOD2/CARD15 mutations in patients, family members and controls, and to determine the allele frequency of these mutations in sporadic CD from other areas of Sicily in comparison with a control population. Methods: Casteltermini is a small town close to Agrigento (Sicily) with a population of 9,130 inhabitants. All the diagnoses of inflammatory bowel disease (IBD) made from 19…

Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Diseas…

2004

Abstract Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of thr…

Genotype and Allele Frequencies of Drug-Metabolizing Enzymes and Drug Transporter Genes Affecting Immunosuppressants in the Spanish White Population

2013

Interpatient variability in drug response can be widely explained by genetically determined differences in metabolizing enzymes, drug transporters, and drug targets, leading to different pharmacokinetic and/or pharmacodynamic behaviors of drugs. Genetic variations affect or do not affect drug responses depending on their influence on protein activity and the relevance of such proteins in the pathway of the drug. Also, the frequency of such genetic variations differs among populations, so the clinical relevance of a specific variation is not the same in all of them. In this study, a panel of 33 single nucleotide polymorphisms in 14 different genes (ABCB1, ABCC2, ABCG2, CYP2B6, CYP2C19, CYP2C…

The frame-shift mutation of the NOD2/CARD15 gene is significantly increased in ulcerative colitis: An ∗IG-IBD study

2004

Transplanting the genetic susceptibility to Crohn’s disease

2003

Susceptibility to Crohn’s disease may be transferred via haematopoietic stem cells, highlighting the pivotal role of genetic factors in the pathogenesis of Crohn’s disease Crohn’s disease (CD) is one of the two most common forms of inflammatory bowel disease (IBD). The prevalence of CD has increased in Western countries over the past decades and mainly young patients are affected, with a peak incidence between 15 and 35 years.1 The aetiology of IBD is still unclear and should be considered as multifactorial according to recent studies.2 Genetic factors seem to play a pathogenic role as well as environmental, infectious, and immunological factors. All of these different aetiological aspects …

Effect of the polymorphism rs2066844 of the NOD2 gene on colon cancer incidence in a high cardiovascular risk population: Modulation by gender

2018

Apoptosis of T cells and the control of inflammatory bowel disease: therapeutic implications.

2007

Inflammatory bowel diseases (IBDs) such as Crohn’s disease and ulcerative colitis are the result of an imbalanced mucosal T cell response. Despite the identification of a genetic susceptibility region in the NOD2/CARD15 (nucleotide-binding oligomerisation domain 2/caspase recruitment domain 15) gene, the aetiology is still unclear. Thus, the hunt for disease-initiating factors such as defects in the mucosal barrier or pathogenic microorganisms is ongoing. By contrast, the immunopathogenesis in IBDs is better understood. The identification of cytokines that are involved in T cell and monocyte signalling led to specific therapeutic concepts. Recent data have clearly shown that the most powerf…

Effect of the pea (Pisum sativum L.) gene PsSym36 on Glomus intraradices gene expression

2007

International audience; The Pisum sativum L. mutant RisNod24 (Pssym36) is defective for arbuscular mycorrhiza formation in late stages of AM. Recent studies identified some plant genes up- and down- regulated at stage of arbuscular development using pea mutant RisNod24, but nothing is still known about fungal gene inactivation. To investigate effect of PsSym36 pea gene on fungal gene expression, Glomus intraradices genes which have been previously identified as markers of successful symbiosis development (Seddas et al., unpublished results) were chosen. List of AM genes used in this study: signalling, transcription, protein turn-over (RHO/GDP dissociation inhibitor, Peptidylprolyl isomerase…